Sunteți pe pagina 1din 231

By / Mohammad magdy ( mohammad alfateh )

**
**
Developmental
Low birth weight: impaired thermoregulation and immune function ,
hypoglycemia , polycythemia ,and impaired neurocognetive/emotional
development .complications : infections , respiratory distress syndrome
, necrotizing enterocolitis , intraventricular hemorrhage and persistent
fetal circulation .
*
Developmental delay : motor , social , verbal/ cognitive :
Early developmental milestones :
*

Changes in the elderly :


Sexual : men: slower erection/ejaculation , long refractory period .
women : vaginal shortening , thinning and dryness .
Sleep patterns : REM and slow wave sleep , sleep onset latency
and early awakening .
suicide rate
vision , hearing , immune response , bladder control .
renal , pulmonary , GI function
muscle mass , fat .
*
Common causes of death ( US ) by age :
Biochemistry
Purine salvage deficiencies :
Adenosine deaminase deficiency : a small undeveloped thymus ,
lymphocytic count , compromised or lacking immunity .
*
Lysch nyhan syndrome : intellectual disability , self-mutilation ,
aggression , hyperuricemia , gout , dystonia.
*
Antiobodies to spliceosomal snRNPs :
Mixed connective tissue disease : MCTD combines features
of scleroderma, myositis , systemic lupus erythematosus,
and rheumatoid arthritis (with some source adding polymyositis
, dermatomyositis , and inclusion body myositis) and is thus considered
an overlap syndrome.
MCTD commonly causes: joint pain/swelling, malaise, Raynaud
phenomenon, muscle inflammation, and sclerodactyly (thickening of
the skin of the pads of the fingers)
*
SLE : in chapter of musculoskeletal .
*

Cell trafficking :
Inclusion cell dis. : coarse fascial features , clouded cornea , restricted
joint movement , and high plasma levels of lysosomal enzymes .
*
Absent or dysfunctional SRP : proteins accumulate in the cytosol .
*
Peroxisome diseases :
Zellweger syn. : hypotonia, seizures, hepatomegaly, early death .
*
Refsum syn. : scaly skin , ataxia , cataract/ night blindness , shortening
of 4th toe , epiphysial dysplasia .
*
Cilia :
Kartagnar syn. ( 1 ciliary dyskinesia ) : male and female infertility ,
risk of ectopic pregnancy , bronchiectasis , recuurent sinusitis , situs
inversus ( e.g. dextrocardia on CXR ) .
*
Collagen synthesis :
Osteogenesis imperfect : multible fractures with minimal trauma , may
occur during the birth process , blue sclera , hearing loss , dental
imperfections .
*
Ehler danlos syn. : hyperextensible skin , tendency to bleed ( easy
bruising ) and hypermobile joints . may be associated with joint
dislocation , berry and aortic aneurysms , organ rupture .
*
Menkes dis. : brittle "kinky" hair , growth retardation , and hypotonia .
*
Wrinkles of aging : are due to collagen and elastin production.
*
Marfan syn. : tall with long extremities ; pectus carinatum
( pigeon chest , more specific) or pectus excavatum (sunken chest ) ;
hypermobile joints ; long , tapering fingers and toes (arachnodactyly);
cystic medial necrosis of aorta; aortic incompetence and dissecting
aortic aneurysms; floppy mitral valve. Subluxation of lenses , typically
upward and temporally.
*

Emphysema : 1-Antitrypsin deficiency results in excess elastase


activity ( details in respiratory chapter ) .
*
GENETICS
mosaicism :
McCune-albright syn. : unilateral caf-au-lait spots with ragged edges ,
polyostotic fibrous dysplasia , precocious puberty , multiple enodrine
abnormalities .
*
Imprinting :
Prader willi syn. : hyperphagia , obesity , intellectual disability ,
hypogonadism , and hypotonia .
*
Angelman syn. : inappropriate laughter ( happy puppet ) , seizures ,
ataxia , and severe intellectual disability .
*
Hypophosphatemic rickets : vit-D resistant , rickets-like presentation .
*

Mitochondrial myopathies :
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like
syndrome (MELAS)
Varying degrees of cognitive impairment and dementia

Lactic acidosis

Strokes

Transient ischemic attacks


Hearing loss

Weight loss

Myoclonic epilepsy and ragged-red fibers (MERRF)

Progressive myoclonic epilepsy


Clumps of diseased mitochondria accumulate in muscle fibers and
appear as "ragged-red fibers" when muscle is stained with
modified Gmri trichrome stain
Short stature

Kearns-Sayre syndrome (KSS)

External ophthalmoplegia
Cardiac conduction defects

Sensorineural hearing loss


Chronic progressive external ophthalmoplegia (CPEO)


Progressive ophthalmoparesis

Symptomatic overlap with other mitochondrial myopathies

*
li-fraumeni syn. : SABLA cancer syndrome : ( sarcoma , breast ,
leukemia , adrenal gland )
*
Neurofibromatosis type 2 : bilateral acostic schwannomas , juvenile
cataracts , meningioma , and ependymomas.
*
Cystic fibrosis : recurrent pulmonary infections ( e.g. pseudomonas ) ,
chronic bronchitis and bronchiectasis , pancreatic insufficiency ,
malabsorption with steatorrhea , and nasal polyps , meconium ileus
in newborns , infertility in males( absence of vas deferens ) and
subfertility in females ( amenorrhea , abnormally thick cervical mucous
. fat-soluble vitamins deficiencies ( A , D , E , K )
*
Muscular dystrophies :

Duschene : Weakness begins in pelvic girdle muscles and progresses


superiorly. Pseudohypertrophy of calf muscles due to fibrofatty
replacement of muscle . Waddling Gait . Lumbar hyperlordosis,
Skeletal deformities (including scoliosis in some cases) , positive
Gowers' sign , Dilated cardiomyopathy is common cause of death .
*
Becker : less severe than Duschene .
*
Myotonic type 1 : myotonia , muscle wasting , cataracts , testicular
atrophy , frontal balding , arrhythmia .
*
Fragile x syn. : post-pubertal macroorchidism ( enlarged testes ) , long
face with large jaw , large everted ears , autism , mitral valve prolapsed
*
Autosomal trisomies :
Down syn. : intellectual disability, flat facies, prominent epicanthal
folds, single palmar crease, gap between 1st 2 toes, duodenal atresia,
Hirschsprung disease, congenital heart disease (eg, atrioventricular
septal defect), Brushfield spots. Associated with early-onset Alzheimer
disease
*
Edward syn. : Prominent occiput, Rocker-bottom feet, Intellectual
disability, Nondisjunction, Clenched fists (with overlapping fingers),
low-set Ears, micrognathia (small jaw), congenital heart disease .
*

Patau syn. : severe intellectual disability, rockerbottom feet,


microphthalmia, microcephaly, cleft liP/Palate, holoProsencephaly,
Polydactyly, cutis aPlasia, congenital heart disease
*
Microdeletions :
Cri-du-chat syn. : microcephaly , moderate to severe intellectual
disability , high-pitched crying/mewing , epicanthal folds , cardiac
abnormalities ( VSD ) .
*
William : distinctive "elfin" fascies , intellectual disability ,
hypercalcemia ( sensitive to vit D ) , well developed verbal skills ,
extreme friendliness with strangers , cardiovascular problems .
*
Digeorge syn. : cleft palate , abnormal facies , thymic dysplasia T-cell
deficiency , cardiac defects , and hypocalcemia 2 to parathyroid
aplasia
*
Velo cardio fascial syn. : palate , facial , and cardiac defects .
*
Nutrition
B-complex defic. : dermatitis , glossitis , and diarrhea .
*
Vit A defic. : night blindness ( nyctalopia ) , dry scaly skin ( xerosis cutis
) , corneal degeneration ( keratomalacia ) , bitot spots on conjunctiva ,
immunosuppression .
*
Excess : Acute toxicitynausea, vomiting, vertigo, and
blurred vision.
Chronic toxicityalopecia, dry skin (eg, scaliness), hepatic toxicity and
enlargement, arthralgias, and pseudotumor cerebri. Teratogenic (cleft
palate, cardiac abnormalities).
*
Vit B1 defic. :
Wernicke-korsakoff syn. : confusion,
ophthalmoplegia, ataxia (classic triad) + confabulation, personality
change, memory loss (permanent) .
Dry beriberipolyneuritis, symmetrical muscle wasting.
Wet beriberihigh-output cardiac failure (dilated cardiomyopathy),
edema
*

Vit B2 defic. : Cheilosis (inflammation of lips, scaling and


fissures at the corners of the mouth), Corneal . vascularization .
*
Vit B3 defic. :
glossitis
Pellagra : Diarrhea, Dementia (also hallucinations) , Dermatitis (C3/C4
dermatome circumferential broad collar rash [Casal necklace],
hyperpigmentation of sunexposed limbs
*
Excess : Facial flushing (induced by prostaglandin, not histamine; can
avoid by taking aspirin with niacin), hyperglycemia , hyperuricemia .
*
Vit B5 def. : Dermatitis, enteritis, alopecia, adrenal insufficiency.
*
Vit B6 def. : Convulsions, hyperirritability, peripheral neuropathy
(deficiency inducible by isoniazid and oral contraceptives), sideroblastic
anemias due to impaired hemoglobin synthesis and iron excess.
*
Vit B7 def. : Dermatitis, alopecia, enteritis.
*
Vit B9 def. : Macrocytic, megaloblastic anemia; hypersegmented
polymorphonuclear cells (PMNs); glossitis; no neurologic symptoms (as
opposed to vitamin B12 deficiency) .
*
Vit B12 def. : Macrocytic , megaloblastic anemia, hypersegmented
PMNs; paresthesias and subacute combined degeneration
(degeneration of dorsal columns, lateral corticospinal tracts, and
spinocerebellar tracts) due to abnormal myelin .
*
Vit C defic. : scurvy : swollen gums, bruising, petechiae,
hemarthrosis, anemia, poor wound healing, perifollicular and
subperiosteal hemorrhages, corkscrew hair.
Weakened immune response.
*
Excess: Nausea, vomiting, diarrhea, fatigue, calcium
oxalate nephrolithiasis. Can risk of iron toxicity in predisposed
individuals (eg, those with transfusions, hereditary hemochromatosis)
*
Vit D defic. : rickets: (deformity, such as genu varum bow legs ) .
Osteomalacia : (bone pain and muscle weakness), hypocalcemic tetany
.
*
Excess : Hypercalcemia, hypercalciuria, loss of appetite, stupor .
*
Vit E defic. : Hemolytic anemia, acanthocytosis, muscle weakness,
posterior column and spinocerebellar tract demyelination.
*
Excess : High-dose supplementation may alter metabolism of vitamin K
enhanced anticoagulant effects of warfarin.
*
Vit K defic. : Neonatal hemorrhage with PT and aPTT
but normal bleeding time .
*
Zink defic. : Delayed wound healing, hypogonadism, adult hair
(axillary, facial, pubic), dysgeusia, anosmia, acrodermatitis
enteropathica A . May predispose to alcoholic cirrhosis.
*

Malnutrition :
Kwashiorkor : Protein malnutrition resulting in skin lesions (
hyperkeratosis and hyperpigmentation ) , edema due to plasma
oncotic pressure,
liver malfunction (fatty change due to apolipoprotein synthesis).
Clinical picture is small child with swollen abdomen .
*
Marasmus : muscle wasting , no edema .
*
Metabolism :
Pyruvate dehydrogenase complex defic. :
Neurologic defects( hypotonia, poor feeding, lethargy and structural
abnormalities in the brain. may develop seizures and/or
neuropathological spasms. disease usually progress to mental
retardation, microcephaly, blindness and spasticity ) , lactic acidosis,
serum alanine starting in infancy.
*
Defic. Of the key gluconeogenic enzymes : hypoglycemia .
*
Glucose 6 phophate dehydrogenase defic. :
hemolytic anemia due to poor RBC defense against oxidizing agents
(eg, fava beans, sulfonamides, primaquine, antituberculosis drugs).
Infection (most common cause) can also precipitate hemolysis .
Prolonged neonatal jaundice, possibly leading to kernicterus , Diabetic
ketoacidosis , Very severe crises can cause acute kidney failure .
*
Essential fructosuria : fructose appears in blood and urine.
*
Fructose intolerance : hypoglycemia , jaundice , cirrhosis , vomiting .
*
Galactokinase defic. : galactose appears in blood (galactosemia) and
urine (galactosuria); infantile cataracts. May present as failure to track
objects or to develop a social smile .
*
Classic galactosemia : failure to thrive, jaundice, hepatomegaly,
infantile cataracts, intellectual disability. Can predispose to E coli sepsis
in neonates.
*
Sorbitol dehydrogenase insuff. : intracellular sorbitol accumulation,
causing osmotic damage (eg, cataracts, retinopathy, and peripheral
neuropathy seen with chronic hyperglycemia in diabetes).
*
Lactase defic. : Bloating, cramps, flatulence, osmotic diarrhea.
*
Enteropeptidase def. : diarrhea , growth retardation and
hypoproteinemia .
*
Urea cycle :
Hyperammonemia : tremor ( asterixis ) , slurring of speech , somnolenc
, vomiting , cerebral edema , blurring of vision .
*
N-acetyl glutamate synthase def. : poorly regulated respiration and
body temperature , poor feeding , developmental delay , intellectual
disability .
*
Ornithine transcarbamylase def. : symptoms of hyper ammonemia ,
no megaloblastic anemia .
*
Amino acids metabolism :
Phenylketonuria : intellectual disability , growth retardation , seizures ,
fair skin , eczema , musty ody odor , hypopigmentation of the skin , hair
and eye .
Maternal PKU : finding in infant : microcephaly , intellectual disability ,
growth retardation , congenital heart defects .
*
Mapple serup dis. : severe CNS defects , intellectual disability and
death .
*
Alkaptonuria : bluish-black connective tissue, ear cartilage, and sclerae
(ochronosis); urine turns black on prolonged exposure to air. May have
debilitating arthralgias (homogentisic acid toxic to cartilage).
*
Homocystinuria : Osteoporosis, Marfanoid habitus, Ocular changes
(downward and inward lens subluxation), Cardiovascular effects
(thrombosis and atherosclerosis stroke and MI), kYphosis,
intellectual disability.
*
Cistinuria : recurrent precipitation of hexagonal cystine stones .
*
Glycogen storage diseases :
Von gierke : Severe fasting hypoglycemia, Glycogen in liver,
blood lactate, triglycerides, uric acid (Gout), and hepatomegaly.
*
Pompe : cardiomegaly , hypertrophic cardiomyopathy , exercise
intolerance , and systemic finding leading to early death .
*
Cori : mid form of type 1 with normal blood lactate levels.
*
Mcardle : glycogen in muscle, but muscle cannot break it down
painful Muscle cramps, Myoglobinuria (red urine) with strenuous
exercise, and arrhythmia from electrolyte abnormalities. Second-wind
phenomenon noted during exercise due to muscular blood flow.
*
Lysosomal diseases :
Fabry : Early: Triad of episodic peripheral neuropathy, angiokeratomas
B , hypohidrosis. Late: progressive renal
failure, cardiovascular disease.
*
Gaucher : Most common. Hepatosplenomegaly, pancytopenia,
osteoporosis, avascular necrosis of femur, bone crises, Gaucher cells
C(lipid-laden macrophages resembling crumpled tissue paper).
*
Niemann pick : Progressive neurodegeneration, hepatosplenomegaly,
foam cells (lipid-laden macrophages) D, cherry-red spot on macula A
.
*
Tay-sachs : Progressive neurodegeneration, developmental delay,
cherry-red spot on macula , lysosomes with onion skin, no
hepatosplenomegaly (vs Niemann-Pick).
*
Krabbe : Peripheral neuropathy, destruction of oligodendrocytes,
developmental delay, optic atrophy, globoid cells.
*
Metachromatic leukodystrophy : Central and peripheral demyelination
with ataxia, dementia.
*
Hurler : Developmental delay, gargoylism, airway obstruction, corneal
clouding, hepatosplenomegaly .
*
Hunter : Mild Hurler + aggressive behavior, no corneal clouding.
*

Fatty acid metabolism :


Systemic 1 carnitine def. : weakness , hypotonia , and hypoketotic
hypoglycemia .
*
Mediam chain acyl-coA dehydrogenase def. : vomiting , lethargy ,
seizures , coma , and liver dysfunction .
*
Familial dyslipidemia
Hyperchylomicronemia : pancreatitis , hepatosplenomegaly , and
eruptive/pruritic xanthoma ( no risk for atherosclerosis ) .
*
Familial hypercholesterolemia : accelerated atherosclerosis ( may have
MI before age 20 ) , tendon ( Achilles ) xanthoma , and corneal arcus .
*
Hypertriglyceridemia : can cause acute pancreatitis .
**
**
Microbiology
Bacteriology
Gram positive
Staph. Aureus :
Inflammatory dis. :
skin infections
organ abscesses
Pneumonia ( often after influenza virus infection )
Endocarditis
Septic arthritis
Osteomyelitis
Toxin-mediated dis. :
Toxic shock syndrome (TSST-1 ) : fever , vomiting , rash , desquamation
, shock , end-organ failure .
*
Scalded skin syndrome (exfoliative toxin ) : widespread formation of
fluid-filled blisters that are thin walled and easily ruptured and the
patient can be positive for Nikolsky's sign , a widespread painful
erythroderma, often involving the face, diaper, and other
intertriginous areas. Extensive areas of desquamation might be
present. Perioral crusting and fissuring are seen early in the course.
*
Rapid-onset food poisoning ( enterotoxin ) : short incubation period ( 2-
6 hr ) followed by nonbloody diarrhea and emesis .
*
MRSA : serious nosocomial and community-acquiered infections .

Staph. Epidermidis
Infects prosthetic devices ( e.g. hip implant , heart valve ) and
intravenous catheters
Staph. saprophyticus
Second most common cause of Uncomplicated UTI in young women .
Staph. Pneumoniae
Most common cause of :
Meningitis
Otitis media ( in children )
Pneumonia
Sinusitis
Viridians group strep. :
1 / Strep. Mutans
Dental caries
2 / strep. Sanguinis
Subacute bact. Endocarditis at damaged heart valves
Streptoccus pyogenes
Pyogenic :
Pharyngitis
Cellulitis
Impetigo : more common precedes glemurulonephritis than pharyngitis
.
Erysipelas
Toxigenic :
Scarlet fever : scarlet rash with sandpaper-like texture , strawberry
tongue , circumoral pallor , subsequent desquamation
*
Toxic shock-like syndrome
*
Necrotizing fasciitis
Immunologic :
Rheumatic fever : migrating polyarthritis , pancrditis , subcutaneous
nodules , erythema marginatum , Sydenham chorea .
Acute glomerulonephritis
Streptococcus agalactiae
Mainly in babies
Pneumonia
Meningitis
Sepsis : fever, low body temperature, rapid breathing, elevated heart
rate, confusion, and edema. Early signs are a rapid heart
rate, decreased urination, and high blood sugar. Signs of established
sepsis include confusion, metabolic acidosis (which may be
accompanied by faster breathing and lead to a respiratory alkalosis)
, low blood pressure due to decreased systemic vascular resistance,
higher cardiac output, and dysfunctions of blood coagulation (where
clotting may lead to organ failure). The drop in blood pressure seen in
sepsis may lead to shock. This may result in light-headedness. Bruising
or intense bleeding may occur
*
Enterococci ( E.faecalis and E. faecium )
UTI
Biliary tract infections
Subacute endocarditis ( following GI , GU procedures)
Streptococcus bovis
Bacteremia
Subacute endocarditis
Associated with colon cancer
Corynebacterium diphteria
Symptoms :
Pseudomembranous pharyngitis ( grayish white membrane )
Lymphadenopathy
Myocarditis
Arrhythmia
Clos. tetani
Tetanus : spastic paralysis , trismus ( lockjaw ) , risus sardonicus ( raised
eyebrows and open grin ) opisthotonos (spasms of spinal extensors).
Clos. Botulinum
Botulism : in adults : Double vision, drooping of both eyelids, loss of
facial expression and swallowing problems . a dry mouth and throat ,
postural hypotension , constipation , nausea, vomiting , difficulty
with talking , weakness , and may lead to coma and death
In babies : floppy baby syn. : poor feeding , lethargy , constipation ,
weakness .
Clos. perfringens
Myonecrosis ( gas gangrene ), gas production, and sepsis . Progression
to toxemia and shock is often very rapid. It can easily be noticed by
the large, blackened sores that form, as well as a degree of loud and
distinctive crepitus caused by gas escaping the necrotic tissue.
Hemolysis
*
Clos. difficile
Pseudomembranous colitis : diarrhea .
*
Anthrax
Cutaneous anthrax : painless papule surrounded by vesicles ulcer
with black eschar ( painless necrotic ) uncommonly progresses to
bacteremia and death .
*
Pulmonary anthrax : flu-like symptoms that rapidly progress to fever ,
pulmonary hemorrhage , mediastinitis , and shock .
*
Bacillus cereus
Food poisoning :
Emetic type : nasea and vomiting within 1-5 hours .
Diarrheal type : watery , nonbloody diarrhea , and GI pain within 8-18
hr.
*
Listeria monocytogenes :
Amnionitis : One of the earliest signs can be regular contractions with
cervical dilation; these symptoms together signify the start of preterm
labor. A flu-like feeling may also be noted at this early stage. As the
infection progresses, the abdomen (uterus) can become tender to
touch and fever may develop .
*
Septicemia
Spontaneous abortion in pregnant women
Granulomatosis infantiseptica : pyogenic granulomas distributed over
the whole body .
Neonatal meningitis
Meningitis in immunocompromised pat.
Mild gastroenteritis in healthy indiv. : incubation period is 21 days, with
diarrhea lasting anywhere from 13 days. Patients present with fever,
muscle aches, gastrointestinal nausea or diarrhea , headache , stiff
neck, confusion, loss of balance, or convulsions.
Actinomyces :
Oral/fascial abcessess that drain through sinus tracts , forms yellow "
sulfar granules " .
Nocardia :
Pulmonary infections in immunocompromised :
cough, dyspnea (shortness of breath), and fever.
encephalitis and/or brain abscess formation
Cutaneous infections in immunocompetent :
actinomycetoma (especially N. brasiliensis), lymphocutaneous
disease, cellulitis, and subcutaneous abscesses.
Myobac. Tuberculosis
Primary TB : fever , night sweat , weight loss , cough , ( nonproductive
or productive ) , hemoptysis .
Progressive lung disease ( HIV , malnutrition ) death .
Severe bacteremia military tuberculosis death
Extrapulmonary TB : CNS : parynchymal tuberculoma or meningitis ) ,
vertebral body : pott disease , lymphadenitis , renal , adrenals .
*
M.avium-intracellulare
Dessiminated none-TB disease in AIDS

M.scrofulaceum
Cervical lymphadenitis in children
M.marinum
Hand infections in aquarium handlers
*
Myobac. Leprae
Lepromatous leprosy : presents diffusely over the skin, with leonine
(lion-like) facies , testicular destruction , blindness , regional anesthesia
, skin thickening plaque hypopigmentation .
*
Tuberculoid leprosy : limited to a hypoesthetic hairless skin plaques
and hypopigmentation .
**
Gram negative :
Neisseria gonorrhoeae
Gonorrhea : urethritis , prostatitis , epididymitis , cervicitis , PID ,
creamy purulent discharge .
Septic arthritis
Neonatal conjunctivitis
Pelvic inflammatory disease
Fitz-hugh-curtis syn. : rare complication of pelvic inflammatory
disease (PID) involving liver capsule inflammation leading to the
creation of adhesions , acute onset of right upper quadrant (RUQ)
abdominal pain aggravated by breathing, coughing or laughing, which
may be referred to the right shoulder .
*
Nesisseria meningitidis
Meningococcemia
Meningitis
Waterhose-friedrichsen syndrome : (adrenal insufficiency, fever, DIC,
shock)
*
Haemophilus influenza
Epiglottitis : sore throat , dysphagia , respiratory distress
Meningitis
Otitis media
Pneumonia
*
Haemophilus ducreyi
Chancroid : painful genital ulcer with exudates , inguinal adenopathy .
*
Legionella pneumophila
Legionnaires dis. : severe pneumonia , ( often unilateral and lobar ) ,
fever , GI and CNS symptoms .
*
Pontiac fever : mild flu-like syndrome .
*
Pseudomonas auroginosa
Pneumonia
Sepsis
Otitis externa ( swimmers ear )
UTIs
Osteomyelitis
Ecthyma gangrenosum : rapidly progressive , necrotic cutaneous lesion
.
Wound infections in burn victims
Hot tub folliculitis
*
E.coli
EIEC : invasive desentry
ETEC : travelers dirrhea
EPEC : diarrhea in children
EHEC :
Desentry
Hemolytic uremic syn. : triad of anemia , thrombocytobenia , and acute
renal failure .
*
klebsiella
lobar pneumonia in alcoholics and diabetics
nosocomial UTIs
*
campylobacter jejuni
major cause of bloody diarrhea , specially in children
common antecedent to Guillain-barre syn.
*
salmonella typhi
typhoid fever : ( red spots on abdomen , constipation , abdominal pain ,
fever )
constipation followed by diarrhea
salmonella spp.
Bloody diarrhea
Shigella
Bloody diarrhea ( bacillary dysentery )
Vibrio cholera
Travelers diarrhea
Yersinia enterocolitica
Acute diarrhea
Pseudoappendicitis : right lower abdominal pain due to mesenteric
adenitis and/or terminal ileitis .
Helicobacter pylori
Gastritis
Peptic ulcer
*

Leptospira interrogans
Leptospirosis : flu-like symptoms, myalgias (classically of calves),
jaundice, photophobia with conjunctival suffusion (erythema without
exudate).
*
Weil dis. : (icterohemorrhagic leptospirosis)severe form with
jaundice and azotemia from liver and kidney dysfunction, fever,
hemorrhage, and anemia.
*
Borrelia burgdorferi
Lyme dis. : Stage 1early localized: erythema migrans (typical bulls-
eye is pathognomonic but not always present) , flu-like symptoms.
Stage 2early disseminated: secondary lesions, carditis, AV block,
facial nerve (Bell) palsy, migratory myalgias /transient arthritis.
Stage 3late disseminated: encephalopathies, Chronic arthritis.
*

Spirochete treponema pallidum : syphilis


Primary syphilis : Localized disease presenting with painless chancre .
Secondary syphilis : Disseminated disease with constitutional
symptoms, maculopapular rash C (including palms and soles),
condylomata lata E (smooth, moist, painless, wart-like white lesions on
genitals),
lymphadenopathy, patchy hair loss .
Tertiary syphilis : Gummas (chronic granulomas), aortitis (vasa vasorum
destruction), neurosyphilis (tabes dorsalis,
general paresis), Argyll Robertson pupil (constricts with
accommodation but is not reactive to light; also called prostitutes
pupil since it accommodates but does not react).
Signs: broad-based ataxia, Romberg, Charcot joint, stroke without
hypertension
*
Congenital syphilis : facial abnormalities such as rhagades (linear scars
at angle of mouth, black arrowin ), snuffles (nasal discharge, red arrow
in), saddle nose, notched (Hutchinson) teeth , mulberry molars, and
short maxilla; saber shins; CN VIII deafness.
*
Jarish-hexheimer reaction : Flu-like syndrome (fever, chills, headache,
myalgia) after antibiotics are started ; due to killed bacteria (usually
spirochetes) releasing toxins.
*
Zoonotic bacteria
Anaplasma spp.
Anaplasmosis : Anaemia may be severe and result in cardiovascular
changes such as an increase in heart rate, blood in the urine . diarrhea,
anorexia and weight loss may also be present. Other symptoms of this
disease could include: Fever, Headache, Muscle pain, Malaise, Chills,
Nausea, and/or Abdominal pain, Cough, and Confusion, and even a
Rash which may be rare with this infection .
*
Bartonella spp.
Cat scratch dis. : tender, swollen lymph nodes near the site of the
inoculating bite or scratch or on the neck, and is usually limited to one
side. A vesicle or an erythematous papule may form at the site of
initial infection .
systemic symptoms : malaise , decreased appetite, and aches.
Other complaints : headache, chills, muscular pains, joint pains
, arthritis , backache , and abdominal pain .
*

bacillary angiomatosis : may take several forms :


papules or nodules which are red, globular and non-blanching, with a
vascular appearance .
purplish nodules sufficiently similar to Kaposi's sarcoma .

a purplish lichenoid plaque .

a subcutaneous nodule which may have ulceration, similar to a


bacterial abscess

*
Borrelia burgdorferi
Lyme dis. : mentioned before .
Borrelia recurrentis
Relapsing fever : sickness between five and 15 days after they are
bitten . a sudden fever, chills, headaches, muscle or joint aches,
and nausea, rash .
These symptoms usually continue for two to 9 days, then disappear.
This cycle may continue for several weeks if the person is not treated .
Brucella spp.
Brucellosis/ undulant fever :
First stage : septicaemia occurs and leads to the classic triad of
undulant fevers, sweating (often with characteristic smell, likened to
wet hay), and migratory arthralgia and myalgia (joint and muscle pain) .
The focalizations of brucellosis occur usually in bones and joints
and spondylodiscitis of the lumbar spine accompanied by sacroiliitis is
very characteristic of this disease. Orchitis is also common in men. The
disease's sequelae are highly variable and may include granulomatous
hepatitis arthritis , spondylitis , anaemia, leukopenia
,thrombocytopenia, meningitis, uveitis, optic neuritis, endocarditis, and
various neurological disorders collectively known as neurobrucellosis.
*
Campylobacter
Bloody diarrhea
Clamydophila psittaci
Psittacosis : incubation period of 519 days , disease range from
inapparent illness to systemic illness with severe pneumonia. It
presents chiefly as an atypical pneumonia . In the first week of
psittacosis the symptoms mimic typhoid fever: prostrating
high fevers, joint pains, diarrhea, conjunctivitis, nose bleeds and low
level of white blood cells in the blood. Rose spots can appear and these
are called Horder's spots. Spleen enlargement is common towards the
end of the first week.
*
Coxiella burnetti
Q fever : flu-like symptoms with abrupt onset of fever , malaise
, profuse perspiration, severe headache, muscle pain, joint pain, loss of
appetite, upper respiratory problems , dry cough, pleuritic pain,
chills, confusion, and gastrointestinal symptoms, such as nausea,
vomiting, and diarrhea. About half of infected individuals exhibit no
symptoms. During its course, the disease can progress to an atypical
pneumonia, which can result in a life-threatening acute respiratory
distress syndrome
*
Ehrlichia chaffeensis
Ehrlishiosis : headache, muscle aches, and fatigue. A rash may occur,
but is uncommon. Ehrlichiosis can also blunt the immune system by
suppressing production of TNF-alpha, which may lead to opportunistic
infections such as candidiasis . "toxic shock-like" syndrome is seen in
some severe cases of ehrlichiosis. Some cases can present with purpura
.
*
francisella tularentis
tularemia : fever, lethargy, loss of appetite, signs of sepsis, and possibly
death . Inflammation spreads to the lymph nodes, which enlarge and
may suppurate .
*
leptospira spp.
Leptospirosis : mentioned before .
Myobac. Leprae
Leprosy : mentioned before .
Pasteurella multocida
Cellulitis , osteomyelitis.
Rickettsia prowazekii
Epidemic typhus : severe headache, a sustained high fever,cough , rash,
severe muscle pain, chills, falling blood pressure , stupor , sensitivity to
light, delirium and death. A rash begins on the chest about five days
after the fever appears , and spreads to the trunk and extremities .
*
Rickettsia rickettsii
Rocky mountain spotted fever : Initial symptoms: Fever Nausea ,
Emesis (vomiting ) , Severe headache , Muscle pain , Lack of appetite ,
Parotitis in some cases (somewhat rare) .
Later signs and symptoms: Maculopapular rash , Petechial rash ,
Abdominal pain Joint pain , Conjunctivitis , Forgetfulness .
*
Rickettsia typhi
Endemic typhus : headache, fever, muscle pain, joint
pain, nausea and vomiting. 4050% of patients will develop a discrete
rash six days after the onset of signs. Up to 45% will develop
neurological signs such as confusion, stupor, seizures or imbalance.
*
Salmonella
Diarrhea , vomiting , fever , adominal cramps .
*
Yersinia pestis
Plague :
Pubonic plague : Y. pestis spreads through the lymphatic vessels of the
infected human until it reaches a lymph node, where it stimulates
severe haemorrhagic inflammation that causes the lymph nodes to
expand. The expansion of lymph nodes is the cause of the
characteristic "bubo" associated with the disease .
Septicemic plague : In septicemic plague, bacterial endotoxins
cause disseminated intravascular coagulation (DIC), causing tiny clots
throughout the body and possibly ischaemic necrosis . there is
bleeding into the skin and other organs, which can cause red and/or
black patchy rash and hemoptysis/hematemesis (coughing up/
vomiting of blood) .
Pneumonic plague : coughin , sneezing , headache, weakness,
and hemoptysis or hematemesis (spitting or vomiting of blood) .
Pharyngeal plague : resembles tonsillitis .
Meningeal plague : meningitis .
*

Gardnerella vaginalis
Bacterial vaginosis : gray vaginal discharge with a fishy smell;
nonpainful (vs vaginitis). Associated with sexual activity .
*
Chlamydia trachomatis :
Types A , B and C : follicular conjunctivitis blindness
Types D-K :
Urethritis , cervicitis , conjunctivitis , reactive arthritis
PID
Ectopic pregnancy
Neonatal pneumonia ( staccato cough ) with eosinophilia
Neonatal conjunctivitis
Types L1 , L2 , L3 :
Lymphogranuloma venereum : small, painless
ulcers on genitals swollen, painful inguinal
lymph nodes that ulcerate (buboes).
*
Mycoplasma pneumonia
Atypical pneumonia : (insidious onset, headache, nonproductive cough,
patchy or diffuse interstitial infiltrate).
Hemolytic anemia
*

mycology
systemic mycosis
Histoblasmosis
Pneumonia
Blastomycosis
Inflammatory lung disease , can dissiminate to skin and bone
Coccidiodomycosis :
Pneumonia and meningitis , can dissiminate to bone and skin ,
profound feeling of tiredness, fever, cough, headaches, rash, muscle
pain, and joint pain . The classic triad of coccidioidomycosis known as
"desert rheumatism" includes the combination of fever, joint pains,
and erythema nodosum. Osteomyelitis, including involvement of the
spine, and meningitis which may occur months to years after initial
infection
Paracoccidiodomycosis : high prostrating fever, generalized
lymphadenopathy , and pulmonary involvement with milliary lesions.
Painful lesions with a violaceous hue in lips and oral mucosa are
common as is cervical lymphadenitis . Pulmonary involvement is also
common; it starts as lobar pneumonia or pleurisy , Other organs can be
involved, such as bones, meninges, arteries, and spleen, but this is very
rare.
Cutaneous mycosis
Tinea ( dermatophytes )
t. capitis : occurs on head , scalp , associated with lymphadenopathy .
t. corporis : Occurs on torso. Characterized by erythematous scaling
rings (ringworm) and central clearing .
t. cruris : Occurs in inguinal area D. Often does not show the central
clearing seen in tinea corporis.
t. pedis : Three varieties:
Interdigital E ; most common
Moccasin distribution F
Vesicular type
t. unguium : Onychomycosis; occurs on nails.
tinea versicolor : Degradation of lipids produces acids that damage
melanocytes and cause hypopigmented G, hyperpigmented, and/or
pink patches. Less pruritic than dermatophytes.
Can occur any time of year, but more common in summer (hot, humid
weather).
opportunistic fungal infections
candida albicans
systemic or superficial fungal infections
oral and esophageal thrush in immune compromised
vulvovaginitis
diaper rash
endocarditis in IV drug users
dissiminated candidiasis
chronic mucocutaneous candidiasis
aspergillus fumigates
invasive aspergillosis
allergic bronchopulmonary aspergillosis : associated with asthma and
cystic fibrosis ; may cause bronchiectasis and eosinophilia .
aspergillomas in lung cavities especially after TB infection
Cryptococcus neoformans
Cryptococcal meningitis
cryptococcosis
Mucor and rhizopus
Mucormycosis
Rhinocerebral , frontal lobe abscess
Cavernous sinus thrombosis
Headache
Facial pain
Black necrotic eschar on face
May have cranial nerve involvement
Pneumocystis jirovecii
Pneumocystis pneumonia , a diffuse interstitial pneumonia
Sporothrix schenckii
Sporotricosis
Local pustule or ulcer
Nodules along draining lymphatics ( ascending lymphangitis )

Parasitology
Giardia lamblia
Giardiasis bloating , flatulence , foul-smelling , fatty diarrhea .
Entamoeba histolytica
Amebiasis bloody diarrhea ( dysentery) , liver abscess , RUQ pain
Cryptosporidium
Severe diarrhea in AIDS
Mild disease ( watery diarrhea ) in immunocompetent host .
CNS infections
Toxoplasmosis gondii
Congenital toxoplasmosis = classic triad of chorioretinitis ,
hydrocephalus and intracranial calcification .
Reactivation in AIDS : brain abscess
Naegleria fowleri
Rapidly fatal meningoencephalitis
Trypanosoma bruci
African sleeping sickness enlarged lymph nodes , recurring fever ,
somnolence , coma .
Hematological infections
Plasmodium :
Malaria fever , headache , anemia , splenomegaly
p.vivax/ovale : 48-hr cycle ( tertian ; include fever on first day and third
day , thus fevers are actually 48 hr apart )
p.falciparum : severe irregular fever .
p.malariae : 72-hr cycle
babesia
babesiosis fever and hemolytic anemia
others
visceral
trypanosome cruzi
chagas disease dilated cardiomyopathy with apical atrophy ,
megacolon , megaesophagus , unilateral periorbital swelling .
leishmania donovani
visceral leishmaniasis ( kala- azar ) spiking fever ,
hepatosplenomegaly , pancytopenia
sexually transmitted
trichomonas vaginitis
vaginitis foul-smelling greenish discharge , itching and burning
nematodes ( roundworms )
intestinal
enterobius vermicularis ( pinworm )
anal pruritus
ascaris lumbricoides ( giant roundworm )
intestinal infection with possible obstruction at ileocecal valve .

strongyloids stercoralis
intestinal infection : vomiting , diarrhea , epigastric pain
ancylostoma duodenale , nectar Americans ( hookworms)
intestinal infection : anemia
trichenella spiralis
inflammation of muscle
trichinosis fever , vomiting , nausea , periorbital edema , myalgia .
tissue
onchoceca volvulus
hyperpigmented skin and river blindness
allergic reaction
loa loa
swelling in skin , worm in conjunctiva

wuschereria bancrofti
elephantiasis worms block lymphatic vessels
toxocara canis
visceral larva migrans

cestodes ( tapeworms )
taenia solium
intestinal infection
cysticercosis
neurocysticercosis
diphyllobothrium latum
vit B12 defic. : megaloblastic anemia
echinococcus granulosus
hydatid cyst in liver
anaphylaxis
trematodes
schistosoma mansoni
liver and spleen enlargement , fibrosis and inflammation
schistosoma haematobium
squamous cell carcinoma of the bladder ( painless hematuria ) and
pulmonary hypertension .
clonorchis sinensis
biliary tract inflammation , pigmented gallstones , cholangiocarcinoma .

DNA viruses
Herpes virus
HSV-1 :
Oral ( and some genital ) lesions
keratoconjunctivitis
gingivostomatitis
herpes labialis
spontaneous temporal lobe encephalitis .
HSV-2 :
genital ( and some oral ) lesions . herpes genitalis , neonatal herpes .
VZV ( HHV-3 ) :
Varicella-zoster ( chickenpox-shingles )
Encephalitis
Pneumonia
Post-herpetic neuralgia
EBV ( HHV-4 ) :
Mononucleosis : fever , hepatosplenomegaly , pharyngitis and
lymphadenopathy .
CMV ( HHV-5 ) :
Congenital infection : ( chorioretinitis ) , hydrocephalus and intracranial
calcification , +/- " blueberry muffin "rash.
Mononucleosis
Pneumonia , typically after organ transplantation
Retinitis
Esophagitis
Colitis
HHV-6 / HHV-7 :
Roseola : high fever for several days that can cause seizures , followed
by a diffuse macular rash .
HHV-8
Kaposi sarcoma
Dark/violaceous plaques or nodules

Hepadnaviruse
HBV :
Acute or chronic hepatitis
Adenovirus
Febrile pharyngitis sore throat
Acute hemorrhagic cystitis
Pneumonia
Conjunctivitis
Parvovirus
B19 virus aplastic crisis in sickle cell disease , "Slapped cheeks" rash in
children
In fetus : Hydrops fetalis and death
In adults : pure RBC aplasia and rheumatoid arthritis-like symptoms .
Papillomavirus
HPV
Condyloma acuminate : genital Warts ( serotypes 1 , 2 , 6 , 11 )
CIN
Cervical cancer ( most commonly 16 , 18 )
Polyomavirus
JC virus :
Progressive multifocal leukoencephalopathy
BK virus :
Transplant patient , commonly targets kidney
Pox virus
Smallpox : The initial or prodromal symptoms are similar to other viral
diseases such as influenza and the common cold: fever of at least
38.3 C (101 F) , muscle pain, malaise, headache and prostration. As
the digestive tract is commonly involved, nausea and vomiting and
backache often occur. The prodrome, or preeruptive stage, usually
lasts 24 days. By days 1215 the first visible lesionssmall reddish
spots called enanthem appear on mucous membranes of the mouth,
tongue, palate, and throat, and temperature falls to near normal.
These lesions rapidly enlarge and rupture, releasing large amounts of
virus into the saliva. Smallpox virus preferentially attacks skin cells,
causing the characteristic pimples (called macules) associated with the
disease. A rash develops on the skin 24 to 48 hours after lesions on the
mucous membranes appear. Typically the macules first appear on the
forehead, then rapidly spread to the whole face, proximal portions of
extremities, the trunk, and lastly to distal portions of extremities .
*
Cowpox ( milkmaid blisters ) : localized, pustular lesions generally
found on the hands and limited to the site of introduction.
*
Molluscum contagiosum flesh-colored papule with centaral
umbilication

RNA viruses
Reoviruses
Colitivirus - Colorado tick fever : Initial symptoms include fever, chills,
headaches, pain behind the eyes, light sensitivity, muscle pain,
generalized malaise, abdominal pain, hepatosplenomegaly, nausea and
vomiting, and a flat or pimply rash . Complications with this disease
have included aseptic meningitis, encephalitis,and hemorrhagic fever,
but these are rare.
*
Rotavirus - #1 cause of fatal diarrhea in children
Picornaviruses
Poliovirus : In 95% of cases only a primary, transient presence
of viremia (virus in the bloodstream) occurs, and the poliovirus
infection is asymptomatic. In about 5% of cases, the virus spreads and
replicates in other sites such as brown fat, reticuloendothelial tissue,
and muscle. The sustained viral replication causes secondary viremia
and leads to the development of minor symptoms such as fever,
headache, and sore throat. Paralytic poliomyelitis occurs in less than
1% of poliovirus infections. Paralytic disease occurs when the virus
enters the central nervous system (CNS) and replicates in motor
neurons within the spinal cord, brain stem, or motor cortex, resulting
in the selective destruction of motor neurons leading to temporary or
permanent paralysis. In rare cases, paralytic poliomyelitis leads
to respiratory arrest and death .
*
Echovirus aseptic meningitis .
*
Rhinovirus common cold , nasopharyngitis : nasal congestion ,
discharge , sneezing , cough , sore throat
*
Coxsackivirus aseptic meningitis , herpangina ( mouth blisters , fever )
, hand ( oval-shaped vesicles on palms and soles ) , foot and mouth
disease (vesicles and ulcers in oral mucosa ) , myocarditis , pericarditis
HAV acute viral hepatitis : episodes of fever , fatigue , nausea ,
appetite loss , abdominal discomfort , jaundice , dark urine , AST ,
ALT .
Hepevirus
HEV : jaundice, fatigue and nausea. The symptomatic phase coincides
with elevated hepatic aminotransferase levels .
*
Calicivirus
Norovirus viral gastroenteritis
Flaviviruses
HCV : acute infection : mild and vague, including a decreased appetite,
fatigue, nausea, muscle or joint pains, and weight loss and rarely
does acute liver failure result. Most cases of acute infection are not
associated with jaundice. The infection resolves spontaneously in 10
50% of cases .
Chronic infection : fatigue and mild cognitive problems. Chronic
infection after several years may cause cirrhosis or liver cancer , Fatty
changes to the liver occur in about half of those infected and are
usually present before cirrhosis develops. Liver cirrhosis may lead
to portal hypertension, ascites (accumulation of fluid in the abdomen)
, easy bruising or bleeding, varices (enlarged veins, especially in the
stomach and esophagus), jaundice, and a syndrome of cognitive
impairment known as hepatic encephalopathy .
*
Yellow fever : high fever , black vomitus and jaundice .
Dengue : sudden-onset fever, headache (typically located behind the
eyes), muscle and joint pains "breakbone fever " , and a rash: flushed
skin, or as a measles-like rash. A rash described as "islands of white in
a sea of red" has also been observed. Some petechiae (small red spots
that do not disappear when the skin is pressed, which are caused by
broken capillaries) as may some mild bleeding from the mucous
membranes of the mouth and nose. The fever itself is
classically biphasic or saddleback in nature, breaking and then
returning for one or two days . fluid accumulation in the chest and
abdominal cavity as well as depletion of fluid from the circulation
and decreased blood supply to vital organs. There may also be organ
dysfunction and severe bleeding , typically from the gastrointestinal
tract. Shock (dengue shock syndrome) and hemorrhage (dengue
hemorrhagic fever) occur in less than 5% of all cases of dengue . Other
neurological disorders have been reported in the context of dengue,
such as transverse myelitis and GuillainBarr syndrome. Infection of
the heart and acute liver failure are among the rarer complications.
A pregnant woman who develops dengue may be at a higher risk
of miscarriage as well as low birth weight and premature birth.
*
St.louis eccephalitis : illness, including fever and headache . severe :
headache, high fever, neck stiffness, stupor, disorientation, coma,
tremors, occasional convulsions and spastic paralysis , and may lead to
death .
*
Zika virus : conjunctivitis, low-grade pyrexia, and itchy rash in 20%
cases. Can lead to congenital microcephaly or miscarriages if
transmitted in utero
*
West nile virus : Headache can be a prominent symptom of WNV fever,
meningitis, encephalitis, meningoencephalitis, and it may or may not
be present in poliomyelitis-like syndrome. Thus, headache is not a
useful indicator of neuroinvasive disease.
West Nile fever (WNF) : In addition to a high fever, headache,
chills, excessive sweating, weakness, fatigue, swollen lymph nodes,
drowsiness, pain in the joints and flu-like symptoms .
Gastrointestinal symptoms that may occur include nausea
, vomiting, loss of appetite, and diarrhea. Fewer than one-third of
patients develop a rash.
West Nile neuroinvasive disease (WNND), meningitis , encephalitis,
meningoencephalitis or a poliomyelitis-like syndrome.
West Nile virus encephalitis (WNE) : WNE presents with similar
symptoms to other viral encephalitis with fever, headaches, and
altered mental status
West Nile meningitis (WNM) usually involves fever, headache, and stiff
neck.

West Nile meningoencephalitis is inflammation of both the brain


(encephalitis) and meninges (meningitis).
West Nile poliomyelitis (WNP), an acute flaccid paralysis syndrome
associated with WNV infection, is less common than WNM or WNE.
This syndrome is generally characterized by the acute onset of
asymmetric limb weakness or paralysis in the absence of sensory loss
West-Nile reversible paralysis, Like WNP, the weakness or paralysis is
asymmetric
Nonneurologic complications of WNV infection that may rarely occur
include fulminant hepatitis , pancreatitis,
myocarditis, rhabdomyolysis, orchitis, nephritis, optic
neuritis and cardiac dysrhythmias and hemorrhagic
fever with coagulopathy. Chorioretinitis may also be more common
than previously thought
Cutaneous manifestations specifically rashes , Punctate
erythematous, macular, and papular eruptions, most pronounced on
the extremities .
*
Togaviruses
Rubella : fever , postauricular and other lymphadenopathy , arthralgia
and fine rash .
Congenital rubella : "blueberry muffin " appearance , microcephaly ,
mental retardation , cataract , deafness , PDA , PS .
*
Eastern equine encephalitis : sudden onset of headache, high fever,
chills, and vomiting. The illness may then progress into disorientation,
seizures, or coma .
*
western equine encephalitis .
*
retroviruses
HTLV ( human T lymphotropic virus ) T-cell leukemia
HIV AIDS : recurrent opportunistic infections , chronic diarrhea ,
Kaposi sarcoma , lymphoma .
*
Coronaviruses
Coronavirus :
"common cold "
*
SARS ( severe acute respiratory syndrome ) : Initial symptoms are flu-
like and may include fever , myalgia , lethargy symptoms, cough, sore
throat, and other nonspecific symptoms. The only symptom common
to all patients appears to be a fever above 38 C (100 F). SARS may
eventually lead to shortness of breath and/or pneumonia; either
direct viral pneumonia or first bacterial pneumonia.
*
Orthomyxoviruses
Influenza virus
Paramyxoviruses
Parainfluenza croup : seal-like barking cough and inspiratory stridor .
RSV bronchiolitis in babies : URT symptoms followed by wheezing ,
cough , resp. distress
Laryngeotracheitis : URT symptoms followed by hoarsness , barking
cough , stridor .
Measles : prodromal fever with cough , coryza and conjunctivitis , then
eventually koplik spots , followed by a maculopaplar rash that starts at
the head/neck and spread downward .
Mumps : parotitis , orchitis , and aseptic meningitis , can cause sterility
.
Rhabdoviruses
Rabies : fever , malaise , then : agitation , photophobia , hydrophobia ,
hypersalivation , then : paralysis , coma , then : death .
Filoviruses
Ebola hemorrhagic fever : abrupt onset of flu-like symptoms ,
diarrhea/vomiting , high fever , myalgia , can progress to DIC , diffuse
hemorrhage , shock .
Marburg hemorrhagic fever :
A maculopapular rash, petechiae, purpura, ecchymoses,
and hematomas (especially around needle injection sites) are typical
hemorrhagic manifestations.

1. Generalization Phase: Day 1 up to Day 5 from onset of clinical


symptoms. : high fever (~40C) and a sudden, severe headache,
with accompanying chills, fatigue, nausea, vomiting, diarrhea,
pharyngitis, maculopapular rash, abdominal pain, conjunctivitis, &
malaise.
2. Early Organ Phase: Day 5 up to Day 13:
prostration, dyspnea, edema, conjunctival injection,
viral exanthema, and CNS symptoms, including encephalitis,
confusion, delirium, apathy, and aggression. Hemorrhagic
symptoms : bloody stools, ecchymoses, blood leakage
from venipuncture sites, mucosal & visceral hemorrhaging, and
possibly hematemesis.
Late Organ Phase: Day 13 up to Day 21+. Symptoms bifurcate into
two constellations for survivors & fatal cases. Survivors will enter
a convalescence phase,
experiencing myalgia, fibromyalgia, hepatitis, asthenia , ocular
symptoms, & psychosis. Fatal cases continue to deteriorate,
experiencing continued fever, obtundation, coma, convulsions,
diffuse coagulopathy, metabolic disturbances, shock and death,
with death typically occurring between Days 8 and 16.
*
Arenaviruses
LCMV lymphocytic choriomeningitis virus : common symptoms
include fever, lack of appetite, headache, muscle aches, malaise,
nausea, and/or vomiting. Less frequent symptoms include a sore throat
and cough, as well as joint, chest, and parotid pain . improves for a few
days, then relapses with aseptic meningitis, or very rarely,
meningoencephalitis. Patients with meningitis may have a stiff neck,
fever, headache, myalgia, nausea and malaise. In some occasions,
meningitis occurs without a prodromal syndrome. Meningoencephalitis
is characterized by more profound neurological signs such as
confusion, drowsiness, sensory abnormalities and motor signs .
complications include myelitis, GuillainBarr-type syndrome, cranial
nerve palsies, transient or permanent hydrocephalus, sensorineural
hearing loss, orchitis, arthritis and parotitis. LCMV infections have also
been associated with pancreatitis, pneumonitis, myocarditis and
pericarditis .
*
Lassa fever encephalitis : After an incubation period of six to 21 days,
an acute illness with multiorgan involvement develops. Nonspecific
symptoms include fever, facial swelling, and muscle fatigue, as well
as conjunctivitis and mucosal bleeding.
The other symptoms arising from the affected organs are:
Gastrointestinal tract : Nausea , Vomiting (bloody) ,
Diarrhea (bloody) , Stomach ache , Constipation ,
Dysphagia (difficulty swallowing) , Hepatitis ,
Cardiovascular system : Pericarditis , Hypertension , Hypotension ,
Tachycardia (abnormally high heart rate) .
Respiratory tract : Cough , Chest pain , Dyspnoea , Pharyngitis ,
Pleuritis .
Nervous system : Encephalitis , Meningitis , Unilateral or bilateral
hearing deficit Seizures
*

Bunyaviruses
California encephalitis : An early symptoms phase of 14 days
commonly precedes the onset of encephalitis. This phase manifests as
fever, chills, nausea, vomiting, headache, and abdominal pain .
The encephalitis is characterized by fever, drowsiness, and lack of
mental alertness and orientation. Seizures occur in 50% of children.
The symptoms include: fever, lethargy, focal neurologic findings, focal
motor abnormalities and paralysis.
*
Sandfly/rift valley fevers :
no symptoms or only a mild illness with fever , headache , muscle
pains, and liver abnormalities. In a small percentage of cases (< 2%),
the illness can progress to hemorrhagic fever syndrome
, meningoencephalitis (inflammation of the brain and tissues lining the
brain), or affect the eye. Patients who become ill usually experience
fever, generalised weakness, back pain, dizziness, and weight loss at
the onset of the illness. Typically, people recover within two to seven
days after onset.
*
Crimean-congo hemorrhagic fever : Typically, after a 13 day
incubation period following a tick bite (56 days after exposure to
infected blood or tissues), flu-like symptoms appear, which may resolve
after one week. In up to 75% of cases, however, signs
of hemorrhage appear within 35 days of the onset of illness in case of
bad containment of the first symptoms: mood instability , agitation
, mental confusion and throat petechiae; and soon after nosebleeds,
vomiting, and black stools. The liver becomes swollen and
painful. Disseminated intravascular coagulation may occur, as well as
acute kidney failure, shock, and sometimes acute respiratory distress
syndrome. Patients usually begin to show signs of recovery after 910
days from when symptoms presented. However 30% of the cases result
in death by the end of the second week of illness.
*
Hantavirus hemorrhagic fever , Pneumonia
Delta virus
HDV : hepatitis D .
*
Prion diseases : spongiform encephalopathy , dementia , ataxia and
death .
Creutzfeldt-jakob disease rapidly progressive dementia
Bovine spongiform encephalopathy ( BSE )
Kuru
*

Immunology
Complement disorders :
C1 esterase inhibitor deficiency : hereditary angioedema. : recurrent
swelling in the extremities, face, lips, larynx or GI tract. The patients
describe a sensation of fullness but not pain or itching in the affected
area except for those with abdominal swellings who often experience
acute abdominal pain
*
C3 deficiency : Increases risk of severe, recurrent pyogenic sinus and
respiratory tract infections; susceptibility to type III hypersensitivity
reaction .
*
C5-9 deficiency : increases susceptibility to recurrent Neisseria
bacteremia.
*
CD55 ; DAF ( GPI-anchored enzyme deficiency ) : complement-
mediated lysis of RBCs and paroxysmal nocturnal hemoglobinuria.
*
Hypersensitivity types :
Type I
Type II
Type III
Type IV
Blood transfusion reactions :
Allergic reaction: Urticaria, pruritus, wheezing, hypotension,
respiratory arrest, shock .
Anaphylactic reaction : dyspnea , bronchospasm , hypotension ,
respiratory arrest , shock .
Febrile non-hemolytic . : fever , headaches , chills , flushing .
Acute hemolytic : fever , hypotension , tachycardia , tachypnea , flank
pain , haemoglobinuria ( intravascular hemolysis ) , jaundice (
extravascular ) .
Transfusion-related acute lung injury : Respiratory distress and
noncardiogenic pulmonary edema.
*
Immunodeficiencies
B cell disorders
X linked ( bruton agammaglobulinemia ) : Recurrent bacterial and
enteroviral infections after 6 months ( maternal IgG).
*
Selective ig A deficiency : Majority Asymptomatic.
Can see Airway and GI infections, Autoimmune Disease , Atopy,
Anaphylaxis to IgA-containing products.
*
Common variable immunodeficiency : Usually presents after age 2 and
may be considerably delayed; risk of autoimmune disease,
bronchiectasis, lymphoma,
sinopulmonary infections.

T cell disorders
Thymic dysplasia ( digeorge syndrome ) : Tetany (hypocalcemia),
recurrent viral/fungal infections (T-cell deficiency), conotruncal
abnormalities (eg, tetralogy of Fallot, truncus arteriosus) .
*

IL 12 receptor deficiency : Disseminated mycobacterial


and fungal infections; may present after administration of
BCG vaccine.
*
AD hyper-ig E syndrome ( job syndrome ) : coarse Facies, cold
(noninflamed) staphylococcal , Abscesses, retained primary Teeth,
IgE, Dermatologic problems (eczema). Bone fractures from minor
trauma.
*
Chronic mucocutaneous candidiasis : Noninvasive Candida albicans
infections of skin and mucous membranes .
*
B and T cell
SCID : Failure to thrive, chronic diarrhea, thrush. Recurrent viral,
bacterial, fungal, and protozoal infections.
*
Ataxia telangiectasia : Triad: cerebellar defects
(Ataxia), spider Angiomas (telangiectasia A ), IgA deficiency.
*
Hyper ig-M syndrome : Severe pyogenic infections
early in life; opportunistic infection with Pneumocystis,
Cryptosporidium, CMV.
*
Wiskott-aldrich syndrome : WATER: Wiskott-Aldrich:
Thrombocytopenia, Eczema, Recurrent (pyogenic) infections. risk of
autoimmune disease and malignancy.
*
Phagocytic dysfunction
Leukocyte adhesion deficiency (type1) : Recurrent skin and mucosal
bacterial infections, absent pus, impaired wound healing, delayed (> 30
days) separation of umbilical cord.
*
Chediak hegashi syndrome : Recurrent pyogenic infections by
staphylococci and streptococci, partial albinism , peripheral
neuropathy, progressive neurodegeneration, infiltrative
lymphohistiocytosis.
*
Chronic granulomatous disease : susceptibility to catalase
organisms.
Transplant rejection
Hyperacute : Widespread thrombosis of graft vessels ischemia
/necrosis.
*
Acute : Vasculitis of graft vessels with dense interstitial lymphocytic
infiltrate .
*
Chronic : Recipient T cells react and secrete cytokines proliferation
of vascular smooth muscle, parenchymal atrophy, interstitial fibrosis.
Dominated by arteriosclerosis. Organ-specific examples: Bronchiolitis
obliterans (lung) , Accelerated atherosclerosis (heart) , Chronic graft
nephropathy (kidney) , Vanishing bile duct syndrome (liver) .
*
Graft versus host disease : Maculopapular rash, jaundice, diarrhea,
hepatosplenomegaly. Usually in bone marrow and liver transplants
(rich in lymphocytes). Potentially beneficial in bone marrow transplant
for leukemia (graft-versus-tumor effect).

**

Organ systems
Hemostasis
Disorders of primary hemostasis :
Immune thrombocytopenic purpura ITP : ( microhemorrhage : mucous
membrane bleeding , epistaxis , hemoptysis , GI bleeding , hematuria ,
and menorrhagia , petechiae , purpura , intracranial bleeding occurs
with severe thrombocytopenia , bleeding time . )
*
Microangiopathic hemolytic anemia :
1 / Thrombotic thrombocytopenic purpura TTP : same as ITP .
2 / Hemolytic uremic syndrome HUS :
Skin and mucosal bleeding , microangiopathic hemolytic anemia , fever
, renal insufficiency , CNS abnormalities.
Qualitative platelets disorders :
Bernard soulier syn. ( microhemorrhage : mucous membrane bleeding
, epistaxis , hemoptysis , GI bleeding , hematuria , and menorrhagia ,
petechiae , purpura , intracranial bleeding occurs with severe
thrombocytopenia , bleeding time . )
*
Glanzman thrombasthenia : same as bernard soulier
*
Aspirin
*
Uremia
Disorders of secondary hemostasis :
Hemophilia A , B , C : deep tissue , joint , and postsurgical bleeding .
Hemophilias Christmas disease : same as hemophilia
Coagulative factor inhibitor : same as hemophilia .
Von willebrand disease : mild mucosal and skin bleeding .
Vit k deficiency : bruising, petechiae, hematomas, oozing of blood at
surgical or puncture sites, stomach pains; risk of massive uncontrolled
bleeding; cartilage calcification; and severe malformation of developing
bone or deposition of insoluble calcium salts in the walls of arteries .
Other causes :
Liver failure
Large volume transfusion
*
Other disorders of hemostasis :
Heparin-induced thrombocytopenia
Disseminated intravascular coagulation : widespread activation of
clotting difficiency of clotting factors bleeding state .
*
Disorders of fibrinolysis :
Radical prostatectomy
Liver cirrhosis

Thrombosis :
1 / Disrubtion in normal blood flow :
Immobilization , cardiac wall dysfunction , aneurism
2 / endothelial cell damage :
Atherosclerosis , vasculitis , CBS deficiency and increased homocysteine
.
3 / hypercoagulable state : decreased anticoagulant and increased
procoagulant :
Protein C or S deficiency : risk of thrombotic skin necrosis with
hemorrgae following administration of warfarin .
Factor V leiden
Prothrombin 20210A
Antithrombin III deficiency
Oral contraceptives
Types of embolism :
Thromboembolus
Atherosclerotic embolus
Fat embolus : associated with bone fracture , characterized by dyspnea
and petechia on the skin overlying the chest .
Gas embolus : joints and musle pain and respiratory symptoms .
Amniotic fluid embolus : shortness of breath , neurologic symptoms ,
and DIC .
*
Pulmonary embolism : shortness of breath , hemoptysis , pleuritic
chest pain , and pleural effusion .
Systemic embolism
Red blood cell disorders
Anemia
Presents with signs and symptoms of hypoxia : weakness , fatigue ,
dyspnea , pale conjunctiva and skin , headache and lightheadedness ,
angina .
Microcytic anemia :
Iron deficiency anemia : anemia , fatigue , conjunctival pallor B , pica
(consumption of nonfood substances) , spoon nails (koilonychia). May
manifest as glossitis , cheilosis .
*
Anemia of chronic disease : Associated with conditions such as
rheumatoid arthritis, SLE, neoplastic disorders, and chronic kidney
disease.
*
Sideroblastic anemia : skin paleness, fatigue, dizziness, and
enlarged spleen and liver. Heart disease, liver damage , and kidney
failure can result from iron buildup in these organs.
*
Thalassemia :
thalassemia :
4 allele deletion: Incompatible with life (causes hydrops fetalis).
3 allele deletion: inheritance of chromosome with cis deletion + a
chromosome with 1 allele deleted HbH disease. Very little -globin.
Excess -globin forms 4 (HbH).
2 allele deletion: less clinically severe anemia.
1 allele deletion: no anemia (clinically silent).
thalassemia :
-thalassemia minor (heterozygote):Usually asymptomatic. Diagnosis
confirmed by HbA2 (> 3.5%) on electrophoresis.
-thalassemia major (homozygote): chain is absent severe
microcytic, hypochromic anemia with target cells and increased
anisopoikilocytosis requiring blood transfusion (2 hemochromatosis).
Marrow expansion (crew cut on skull x-ray) skeletal deformities.
Chipmunk facies. Extramedullary hematopoiesis
hepatosplenomegaly. risk of parvovirus B19induced aplastic crisis.
HbF(22). HbF isprotective in the infant and disease becomes
symptomatic only after 6 months, when fetal hemoglobin declines.
HbS/-thalassemia heterozygote: mild to moderate sickle cell disease
depending on amount of -globin production.
*
Lead poisoning : Lead Lines on gingivae (Burton lines) and on
metaphyses of long bones D on x-ray. Encephalopathy and Erythrocyte
basophilic stippling. Abdominal colic and sideroblastic Anemia. wrist
and foot drop.
*
*
Macrocytic anemia :
Non megaloblastic macrocytic anemia : Caused by alcoholism, liver
disease.
*
Folate deficiency : Loss of appetite and weight loss can occur.
weakness, sore tongue , headaches ,heart palpitations , irritability,
and behavioral disorders. In adults, anemia (macrocytic, megaloblastic
anemia) can be a sign of advanced folate deficiency.
In infants and children, folate deficiency can slow growth rate. Women
with folate deficiency who become pregnant are more likely to give
birth to low birth weight premature infants, and infants with neural
tube defects.
*
Vit B12 deficiency : Neurologic symptoms: reversible dementia,
subacute combined degeneration (due to involvement of B12 in fatty
acid pathways and myelin synthesis): spinocerebellar tract, lateral
corticospinal tract, dorsal column dysfunction.
*
Orotic aciduria : Presents in children as failure to thrive,
developmental delay, and megaloblastic anemia refractory to folate
and B12. No hyperammonemia (vs ornithine transcarbamylase
deficiency orotic acid with hyperammonemia).
*
Diamond blackfan anemia : Short stature, craniofacial abnormalities,
and upper extremity malformations (triphalangeal thumbs) in up to
50% of cases.
**

Normocytic anemia :
A / Extravascular hemolysis :
Heridetary spherocytosis : Splenomegaly, aplastic crisis (parvovirus
B19 infection).
*

Sickle cell anemia : Complications in sickle cell disease:


Aplastic crisis (due to parvovirus B19). Autosplenectomy (Howell-Jolly
bodies) risk of infection by encapsulated organisms (eg, S
pneumoniae). Splenic infarct /sequestration crisis. Salmonella
osteomyelitis. Painful crises (vaso-occlusive): dactylitis B(painful
swelling of hands/feet), priapism, acute chest syndrome, avascular
necrosis, stroke. Renal papillary necrosis ( Po2 in papilla)
and microhematuria (medullary infarcts).
Hemoglobin C : Most people do not have symptoms. It can cause a
mild to moderate enlargement of the spleen , splenomegaly, as well
as hemolytic anemia , Some persons with this disease may develop
gallstones that require treatment .
*
Pyruvate kinase deficiency : Hemolytic anemia in a newborn
*
B / Intravascular hemolysis :
Paroxysmal nocturnal hemolytic anemia : Intravascular hemolysis
occurs episodically, often at night during sleep.
1. Mild respiratory acidosis develops with shallow breathing during
sleep and activates complement.
2. RBCs, WBCs, and platelets are lysed.
3. Intravascular hemolysis leads to hemoglobinemia and
hemoglobinuria (especially in the morning); hemosiderinuria is seen
days after hemolysis.
Triad: Coombs hemolytic anemia,
pancytopenia, and venous thrombosis.
*
G6PD : Back pain, hemoglobinuria a few days after oxidant stress.
*
Autoimmune hemolytic anemia :
a: warm agglutinin : Associated with SLE (most common cause), CLL,
and certain drugs (classically, penicillin and cephalosporins)
b: cold agglutinin : acute anemia triggered by cold; seen in CLL,
Mycoplasma pneumoniae infections, and infectious Mononucleosis
(cold weather MMMiserable). RBC agglutinates A may cause painful,
blue fingers and toes with cold exposure.
*
Microangiobathic hemolytic anemia : RBCs are damaged when passing
through obstructed or narrowed vessel lumina.
Seen in DIC, TTP/HUS, SLE, HELLP syndrome, and malignant
hypertension.
*
Macroangiobathic hemolytic anemia : Prosthetic heart valves and
aortic stenosis may also cause hemolytic anemia 2 to mechanical
destruction of RBCs.
*
Infections : destruction of RBCs (eg, malaria, Babesia).
*
Anemia due to underproduction :
Parvovirus B19
Aplastic anemia : Symptoms: fatigue, malaise, pallor, purpura, mucosal
bleeding, petechiae, infection.
Myelophthisic process : pancytopenia .
porphyrias
lead poisoning : Microcytic anemia (basophilic stippling in
peripheral smear A , ringed sideroblasts in bone marrow), GI and
kidney disease.
Childrenexposure to lead paint mental deterioration.
Adultsenvironmental exposure (eg, batteries, ammunition)
headache, memory loss, demyelination.
*
acute intermittent porphyria : Symptoms (5 Ps): Painful abdomen ,
Port winecolored urine , Polyneuropathy , Psychological disturbances ,
Precipitated by drugs (eg, cytochrome P-450 inducers), alcohol ,
starvation .
*
porphyria cutanea tarda : Blistering cutaneous photosensitivity and
hyperpigmentation . Most common porphyria. Exacerbated with
alcohol consumption
*
Iron poisoning : Nausea, vomiting, gastric bleeding, lethargy , scarring
leading to GI obstruction.
*

White blood cell disorders :


Leukemia : Unregulated growth and differentiation of WBCs in bone
marrow marrow failure anemia ( RBCs), infections ( mature
WBCs), and hemorrhage ( platelets). Usually presents with
circulating WBCs (malignant leukocytes in blood); rare cases present
with normal/ WBCs.
Leukemic cell infiltration of liver, spleen, lymph nodes, and skin
(leukemia cutis) possible.

Acute leukemia :
Acute lymphoblastic leukemia : Associated with Down syndrome.
Acute myeloid leukemia : DIC is a common presentation.
Acute promyelocytic leuk.
Acute monocytic leuk. : infilteration of gums .
Acute megakaryoblastic leuk.
Chronic leukemia :
Chronic myelogenous leukemia : Presents with dysregulated
production of mature and maturing granulocytes (eg, neutrophils,
metamyelocytes, myelocytes, basophils E ) and splenomegaly. May
accelerate and transform to AML or ALL (blast crisis).
*
SLL / Chronic lymphocytic leukemia : Often
asymptomatic, progresses slowly , autoimmune
hemolytic anemia.
*
Hairy cell leukemia : usually present with massive splenomegaly and
pancytopenia.
*
Adult T cell leukemia / lymphoma : cutaneous lesions , lytic bone
lesions , hypercalcemia .
*
Mycosis fungoides/ sezary syndrome : skin patches / plaques (
cutaneos T-cell lymphoma ) , may progress to sezary syndrome ( T-cell
leukemia ) .
**
**

Myeloproliferative disorders :
Polycythemia vera : present as intense itching after hot shower. Rare
but classic symptom is erythromelalgia (severe, burning pain and red-
blue coloration) due to
episodic blood clots in vessels of the extremities .
*
Essential thrombocythemia : bleeding and thrombosis .
*
Myelofibrosis : associated with
massive splenomegaly and teardrop RBCs .
**

lymphadenopathy :
painfull : acute lymphadenopathy
painless : chronic inflammation , metastatic carcinoma , lymphoma

lymphoma
1 / non-hodgkin : fewer constitutional signs/symptoms .
small B cells :
follicular : painless " waxing and waning " lymphadenopathy .
mantle cell : painless lymphadenopathy
marginal zone : Associated with chronic inflammatory states such as
Hashimoto thyroiditis, Sjogren syndrome, and H pylori gastritis
primary central nervous system lymphoma : confusion, memory loss,
seizures. Mass lesion(s) on MRI
*
intermediate-sized B cells :
Birkitt: jaw lesions in endemic form in africa , pelvis or adomen in
sporadic form .
*
Large B cells :
Diffuse large B cell lymph.
**
**
2 / Hodgkin lymphoma : constitutional ( B ) signs/symptoms : low
grade fever , night sweats , weight loss .
Nodular sclerosing
Mixed cellularity
Lymphocyte-depleted
**
Plasma cell disorders :
Multible myeloma :
Hyper uricemia
HyperCalcemia nephrocalcinosis .
Renal involvement : pyelonephritis , acute renal failure .
Anemia : normocytic and normochromic .
Bone lytic lesions/Back pain : bone pain usually involves the spine and
ribs, and worsens with activity, Involvement of the vertebrae may lead
to spinal cord compression or kyphosis .
infections : pneumonias and pyelonephritis.
Neurological symptoms : weakness, confusion, and fatigue , Headache,
visual changes , retinopathy , radicular pain, loss of bowel or bladder
control (due to involvement of spinal cord leading to cord compression
) or carpal tunnel syndrome, and other neuropathies(due to infiltration
of peripheral nerves by amyloid) may occur. It may give rise to
paraplegia in late-presenting cases.
*
Monoclonal gammopathy of undetermined significans :
asymptomatic, may lead to multiple myeloma.
*
Waldenstrom macroglobulinemia : hyperviscosity syndrome (eg,
blurred vision, Raynaud phenomenon); no CRAB findings.
*

Myelodysplastic syndromes :
Anemia (low RBC count or reduced hemoglobin) chronic tiredness,
shortness of breath, chilled sensation, sometimes chest pain;
Neutropenia (low neutrophil count) increased susceptibility
to infection;
Thrombocytopenia (low platelet count) increased susceptibility
to bleeding and ecchymosis (bruising), as well as subcutaneous
hemorrhaging resulting in purpura or petechiae.
*
Pseudo-pelger-huet anomaly : neutrophils with bilobed nuclei.
Typically seen after chemotherapy.
*
Langerhans cell histiocytosis :
Littersiwe disease
Eosinophilic granuloma
Hand- schuller-christian disease
*
Vascular pathology
Vasculitis :
Large-vessel :
Temporal giant cell arteritis : Usually elderly females
Unilateral headache (temporal artery), jaw claudication. May lead to
irreversible blindness due to ophthalmic artery occlusion. Associated
with polymyalgia rheumatica.
*
Takayasu arteritis :
Usually Asian females < 40 years old. Pulseless disease (weak upper
extremity pulses), fever, night sweats, arthritis, myalgias, skin nodules,
ocular disturbances.
*
Medium-vessel :
Polyarteritis nodosa : Usually middle-aged men.
Hepatitis B seropositivity in 30% of patients.
Fever, weight loss, malaise, headache. GI: abdominal pain, melena.
Hypertension, neurologic dysfunction, cutaneous eruptions, renal
damage.
*
Kawasaki disease : Asian children < 4 years old.
Conjunctival injection, Rash (polymorphous desquamating) ,
Adenopathy (cervical), Strawberry tongue (oral mucositis) D, Handfoot
changes (edema, erythema), fever.
*
Burger disease : Heavy smokers, males < 40 years old.
Intermittent claudication may lead to gangrene F , autoamputation of
digits, superficial nodular phlebitis.
Raynaud phenomenon is often present.
*
Small-vessel :
Wegner granulomatosis : Upper respiratory tract: perforation of nasal
septum, chronic sinusitis, otitis media, mastoiditis. Lower respiratory
tract: hemoptysis, cough, dyspnea. Renal: hematuria, red cell casts.
*
Microscopic poliangiitis : Necrotizing vasculitis commonly involving
lung, kidneys, and skin with pauci-immune glomerulonephritis and
palpable purpura. Presentation similar to granulomatosis with
polyangiitis but without nasopharyngeal involvement.
*
Henoch-schonlein purpura : Most common childhood systemic
vasculitis. Often follows URI.
Classic triad: Skin: palpable purpura on buttocks/legs ,Jarthralgias , GI:
abdominal pain
*
Eosinophilic granulomatosis with polyangiitis ( Churg strauss
syndrome ) : Asthma, sinusitis, skin nodules or purpura, peripheral
neuropathy (eg, wrist/foot drop).
Can also involve heart, GI, kidneys (pauciimmune glomerulonephritis).
*
Hypertension :
Primary and secondary
Symptoms of hypertension : headaches (particularly at the back of the
head and in the morning), as well as lightheadedness , vertigo
, tinnitus (buzzing or hissing in the ears), altered vision or fainting
episodes.
Hypertensive urgency : severe ( 180/ 120 mm Hg) hypertension
without acute end-organ damage.
Hypertensive emergency : severe hypertension with evidence of acute
end-organ damage (eg, encephalopathy, stroke, retinal hemorrhages
and exudates, papilledema, MI, HF, aortic dissection,
kidney injury, microangiopathic hemolytic anemia, eclampsia).
Hypertension predispose to : CAD, LVH, HF, atrial fibrillation; aortic
dissection, aortic aneurysm; stroke; chronic kidney disease
(hypertensive nephropathy); retinopathy.
*
Arteriosclerosis :
1 / Atherosclerosis : Angina, claudication, but can be asymptomatic.
COMPLICATIONS Aneurysms, ischemia, infarcts, peripheral vascular
disease, thrombus, emboli.
2 / Arteriolosclerosis : sudden weakness, facial or lower
limbs numbness, confusion, difficulty understanding speech and
problems seeing .
A / hyaline
B / hypertrophic
3 / monckeberg medial calcific sclerosis : the same .
*
Aortic dissection : present with tearing, sudden-onset chest pain,
radiating to the back +/ markedly unequal BP in arms.
*
Aortic aneurism : asymptomatic . As they enlarge, symptoms such
as abdominal pain and back pain may develop. Compression of nerve
roots may cause leg pain or numbness. Untreated, aneurysms tend to
become progressively larger . Rarely, clotted blood which lines most
aortic aneurysms can break off and result in an embolus.
Thoracic : may lead to aortic valve regurgitation. a common sign is a
hoarse voice from stretching of the left recurrent laryngeal nerve .
abdominal : palpable pulsatile abdominal mass
*
Hereditary hemorrhagic telangiectasia : blanching skin lesions
(telangiectasias), recurrent epistaxis, skin discolorations , arteriovenous
malformations (AVMs), GI bleeding, hematuria. Also known as Osler-
Weber-Rendu syndrome.
*
Vascular tumors :
Cherry hemangioma : Benign capillary hemangioma of the elderly
Bacillary angiomatosis : Benign capillary skin papules, found in AIDS
patients.
Glomus tumor : Benign, painful, red-blue tumor, commonly under
fingernails
Angiosarcoma : occurring in the head, neck, and breast areas. Usually
in elderly, on sun-exposed areas
Cystic higroma : Cavernous lymphangioma of the neck C . Associated
with Turner syndrome.
Pyogenic ganuloma : Polypoid lobulated capillary hemangioma that
can ulcerate and bleed. Associated with trauma and pregnancy.
Strawberry hemangioma : Benign capillary hemangioma of infancy .
Appears in first few weeks of life (1/200 births); grows rapidly and
regresses spontaneously by 58 years old.

Kaposi sarcoma : Endothelial malignancy most commonly of the skin,


but also mouth, GI tract, and respiratory tract.
Associated with HHV-8 and HIV.
*
Hyperlipidemia signs :
Xanthomas : Plaques or nodules composed of lipid-laden histiocytes in
skin , especially the eyelids (xanthelasma )
Tendinous xanthoma : Lipid deposit in tendon , especially Achilles.
Corneal arcus : Lipid deposit in cornea. Common in elderly (arcus
senilis), but appears earlier in life in hypercholesterolemia.
*
Raynaud phenomenon : arteriolar (small vessel) vasospasm in
response to cold or stress: color change from white (ischemia) to blue
(hypoxia) to red (reperfusion) . Most often in the fingers A and toes.
**

Cardiac pathology
Patent foramen ovale : a hidden condition that doesn't create signs or
symptoms , Can lead to paradoxical emboli (venous thromboemboli
that enter systemic arterial circulation), similar to those resulting from
an ASD.
*
Torsades de pointes : palpitations, dizziness, lightheadedness (short
episodes), fainting (longer episodes), and sudden cardiac death.
*
Congenital long QT syndrome : no signs or symptoms. Some people
may experience : Fainting (or syncope) , seizures , sudden death .
Romano-ward syn. : pure cardiac phenotype (no
deafness).
Jervell and lange-nielsen syn. : with sensorineural deafness
*
Brugada syndrome : risk of ventricular tachyarrhythmias and SCD
*
Wolff-parkinson-white syn. : May result in reentry circuit
supraventricular tachycardia.
*
Atrial fibrillation : Rapid and irregular heart rates may be perceived
as palpitations or exercise intolerance and occasionally may
produce anginal chest pain (if the high heart rate causes ischemia).
Other possible symptoms include congestive symptoms such
as shortness of breath or swelling. . Can lead to thromboembolic
events, particularly stroke.
*
Atrial flutter : regular palpitations. people with other underlying heart
disease or poor exercise tolerance may rapidly develop symptoms,
which can be shortness of breath, chest pains, lightheadedness or
dizziness, nausea and, in some patients, nervousness and feelings of
impending doom.
*
Ventricular fibrillation : a cause of cardiac arrest and sudden cardiac
death.
*
AV block
1st degree : benign and symptoms .
2nd degree :
mobitz type 1 ( wenchebach ) : usually asymptomatic , may manifest
irregularity of heart rate .
Mobitz type 2 : irregularities of the heartbeat, presyncope , or syncope
may occur; may manifest on physical examination as bradycardia .
3rd degree : Frequently associated with symptoms such as fatigue,
dizziness, light-headedness, presyncope, and syncope; associated with
profound bradycardia unless the site of the block is located in the
proximal portion of the atrioventricular node (AVN) .
*
Angina : described as a pressure, heaviness, tightness, squeezing,
burning, or choking sensation. Apart from chest discomfort, anginal
pains may also be experienced in the epigastrium (upper central
abdomen), back, neck area, jaw, or shoulders.
Stable : chest discomfort and associated symptoms precipitated by
some activity (running, walking, etc.) with minimal or non-existent
symptoms at rest or after administration of sublingual nitroglycerin
Unstable : defined as angina pectoris that changes or worsens.[5]
It has at least one of these three features:
1. it occurs at rest (or with minimal exertion), usually lasting more
than 10 minutes
2. it is severe and of new onset (i.e., within the prior 46 weeks)
3. it occurs with a crescendo pattern (i.e., distinctly more severe,
prolonged, or frequent than before).

Prinzmetal : occurs at rest 2 to coronary artery spasm


*
Coronary steel syndrome : Administration of vasodilators
(eg, dipyridamole, regadenoson) dilates normal vessels and shunts
blood toward well-perfused areas, thereby diverting flow away from
vessels that are stenosed and leading to ischemia in myocardium
perfused by these vessels.
*
Myocardial infarction : diaphoresis, nausea, vomiting, severe
retrosternal pain, pain in left arm and/or jaw, shortness of breath,
fatigue.
*
*
Sudden cardiac death : Death from cardiac causes within 1 hour of
onset of symptoms .
*
Chronic ischemic heart disease : Progressive onset of HF over many
years due to chronic ischemic myocardial damage.
*
Congestive heart failure :
Clinical syndrome of cardiac pump dysfunction congestion and low
perfusion. Symptoms
include dyspnea, orthopnea, fatigue; signs include S3 heart sound,
rales, jugular venous distention
(JVD), pitting edema .
Left sided :
Orthopnea Shortness of breath when supine ,
Paroxysmal nocturnal dyspnea Breathless awakening from sleep .
Pulmonary edema pulmonary venous pressure pulmonary
venous distention and transudation of fluid.
Right sided :
Hepatomegaly (nutmeg liver) : central venous pressure
resistance to portal flow. Rarely, leads to cardiac cirrhosis.
Jugular venous distention : venous pressure.
Peripheral edema : venous pressure fluid transudation.
Congenital defects :
Left to right shunt : Acyanotic at presentation; cyanosis may occur
years later.
VSD : Asymptomatic at birth, may manifest weeks
later or remain asymptomatic throughout life.
Most self resolve; larger lesions may lead to LV
overload and HF.
ASD : Symptoms range from none to HF .
PDA : In neonatal period, pulmonary vascular resistance shunt
becomes left to right progressive RVH and/or LVH and HF.
Associated with a continuous, machine-like murmur.
Eisenmenger syn. : late cyanosis, clubbing , and polycythemia.
**
Right to left shunt : Early cyanosisblue babies.
Total anomalous pulmonary venous return ( TAPVR ) :

right ventricular heave


Loud S1
fixed split S2
S3 gallop
systolic ejection murmur at left upper sternal border
cardiomegaly
right axis deviation on ECG
Snowman sign or `figure of 8 configuration` on chest radiograph
right ventricular hypertrophy
cyanosis, tachypnea, dyspnea since the overloaded pulmonary
circuit can cause pulmonary edema

*
Tetrallogy of fallot : a heart murmur which may range from almost
imperceptible to very loud, difficulty in feeding, failure to gain weight,
retarded growth and physical development, dyspnea on exertion,
clubbing of the fingers and toes, and polycythemia. The baby may turn
blue with breast feeding or crying.
"tet spells" : acute hypoxia spells, characterized by shortness of
breath, cyanosis, agitation, and loss of consciousness .
*
D-transposition of great vessels
*

Truncus arteriosus : Cyanosis presents at birth


Heart failure may occur within weeks
Systolic ejection murmur is heard at the left sternal border
Widened pulse pressure
Bounding arterial pulses
Loud second heart sound
Biventricular hypertrophy
Cardiomegaly
Increased pulmonary vascularity
Hypocalcemia (if associated with DiGeorge syndrome)
*

Tricuspid atresia :

progressive cyanosis
poor feeding
tachypnea over the first 2 weeks of life
holosystolic murmur due to the VSD
left axis deviation on electrocardiography and left ventricular
hypertrophy (since it must pump blood to both the pulmonary and
systemic systems)
normal heart size
*

Ebstein anomaly :

S3 heart sound
S4 heart sound
Triple or quadruple gallop due to widely split S1 and S2 sounds plus
a loud S3 and/or S4
Systolic murmur of tricuspid regurgitation = Holosystolic or early
systolic murmur along the lower left sternal border depending on
the severity of the regurgitation
Right atrial hypertrophy
Right ventricular conduction defects
Wolff-Parkinson-White syndrome often accompanies

*
Coarctation of aorta : Associated with
bicuspid aortic valve, other heart defects, and
Turner syndrome. Hypertension in upper
extremities and weak, delayed pulse in lower
extremities (brachial-femoral delay). With age,
intercostal arteries enlarge due to collateral
circulation; arteries erode ribs notched
appearance on CXR.
*
Valvular disorders :
Acute rhematic fever :
Major criteria
Polyarthritis : A temporary migrating inflammation of the large
joints, usually starting in the legs and migrating upwards.
Carditis: Inflammation of the heart muscle (myocarditis) which can

manifest as congestive heart failure with shortness of


breath, pericarditis with a rub, or a new heart murmur.
Subcutaneous nodules: Painless, firm collections of collagen fibers

over bones or tendons. They commonly appear on the back of the


wrist, the outside elbow, and the front of the knees.
Erythema marginatum: A long-lasting reddish rash that begins on

the trunk or arms as macules, which spread outward and clear in the
middle to form rings, which continue to spread and coalesce with
other rings, ultimately taking on a snake-like appearance. This rash
typically spares the face and is made worse with heat.
Sydenham's chorea (St. Vitus' dance): A characteristic series of

involuntary rapid movements of the face and arms. This can occur
very late in the disease for at least three months from onset of
infection.
Minor criteria :
Fever of 38.238.9 C (100.8102.0 F)
Arthralgia: Joint pain without swelling (Cannot be included if
polyarthritis is present as a major symptom)
Raised erythrocyte sedimentation rate or C reactive protein
Leukocytosis
ECG showing features of heart block, such as a prolonged PR
interval (Cannot be included if carditis is present as a major
symptom)
Previous episode of rheumatic fever or inactive heart disease

*
Chronic rheumatic fever
*
Aortic stenosis :
1. Concentric left ventricular hypertrophy-may progress to cardiac
failure
2. Angina and syncope with exercise-Limited ability to increase blood
flow across
the stenotic valve leads to decreased perfusion of the myocardium and
brain.
3. Microangiopathic hemolytic anemia-RBCs are damaged (producing
schistocytes) while crossing the calcified valve.
Aortic regurgitation :
Symptoms of aortic insufficiency are similar to those of heart failure .
1. Early, blowing diastolic murmur
2. Hyperdynamic circulation due to increased pulse pressure
i. Pulse pressure is the difference between systolic and diastolic
pressures.
ii. Diastolic pressure decreases due to regurgitation, while systolic
pressure increases due to increased stroke volume.
iii. Presents with bounding pulse (water-hammer pulse), pulsating nail
bed (Quincke pulse), and head bobbing .
*
Mitral valve prolapse :
Presents with an incidental mid-systolic click followed by a
regurgitation murmur; usually asymptomatic .
Click and murmur become louder with squatting (increased systemic
resistance decreases left ventricular emptying).
Complications are rare, but include infectious endocarditis ,
arrhythmia, and severe mitral regurgitation.
*
Mitral valve regurgitation :
Holosystolic "blowing" murmur; louder with squatting (increased
systemic resistance decreases left ventricular emptying) and expiration
(increased return to left atrium) .
Results in volume overload and left-sided heart failure .
*
Mitral valve stenosis :
Opening snap followed by diastolic rumble
Volume overload leads to dilatation of the left atrium, resulting in
i. Pulmonary congestion with edema and alveolar hemorrhage
ii. Pulmonary hypertension and eventual right-sided heart failure
iii. Atrial fibrillation with associated risk for mural thrombi
*
Endocarditis : Fever (most common symptom), new murmur, Roth
spots (round white spots on retina surrounded by hemorrhage ), Osler
nodes (tender raised lesions on finger or toe pads due to immune
complex deposition), Janeway lesions (small, painless, erythematous
lesions on palm or sole), glomerulonephritis , septic arterial or
pulmonary emboli, splinter hemorrhages on nail bed.
*
Takotsubo cardiomyopathy: broken heart syndromeventricular
apical ballooning likely due to increased sympathetic stimulation
(stressful situations).
*
Cardiomyopathy :
Dilated : may not cause symptoms significant enough to impact
on quality of life.

May cause : Shortness of breath


Syncope
Angina, but only in the presence of ischemic heart disease
*
Hypertrophic : Many patients are asymptomatic or mildly
symptomatic. The symptoms and signs of HCM include shortness of
breath (dyspnea) due to stiffening and decreased blood filling of the
ventricles, exertional chest pain (sometimes known as angina) due to
reduced or restricted blood flow (ischemia) to the coronary arteries,
uncomfortable awareness of the heart beat (palpitations) due to the
aforementioned ischemia, as well as disruption of the electrical system
running through the abnormal heart muscle, lightheadedness, fatigue,
fainting during exercise (called syncope) and sudden cardiac death
Restrictive : diastolic dysfunction and eventually heart failure.
*
Hypertrophic obstructive cardiomyopathy (subset)asymmetric
septal hypertrophy and systolic anterior motion of mitral valve
outflow obstruction dyspnea, possible syncope.
*
Loffler syndromeendomyocardial fibrosis with a prominent
eosinophilic infiltrate.
*
Cardiac tumors :
Myxoma : ball valve obstruction in the left atrium (associated with
multiple syncopal episodes)
*
Rhabdomyoma
*
Metastasis
*
Acute pericarditis : Chest pain is one of the common symptoms of
acute pericarditis. It is usually of sudden onset, occurring in the
anterior chest and often has a sharp quality that worsens with
breathing in or coughing , The pain may be reduced with sitting up and
leaning forward while worsened with lying down, and also may radiate
to the back , Fever may be present since this is an inflammatory
process.
*
Cardiac tamponade : cardiogenic shock including shortness of breath,
weakness, lightheadedness, and cough. Other symptoms may relate to
the underlying cause Beck's triad : Low blood pressure occurs because
of decreased stroke volume, jugular-venous distension due to impaired
venous return to the heart, and muffled heart sounds due to fluid
buildup inside the pericardium.
*
Syphilitic heart disease : result in aneurysm of ascending aorta or
aortic arch, aortic insufficiency.
**
Respiratory tract pathology
Nasopharynx :
Rhinosinusitis : thick nasal mucus, a plugged nose, facial pain or
pressure of a dull, constant, or aching sort over the affected
sinuses. Other signs and symptoms may include fever, headaches, poor
sense of smell, sore throat, and cough
*
Rhinitis : sneezing, congestion, and runny nose (common cold) .
*
Pharyngitis : typically results in a sore throat and fever . Other
symptoms may include a runny nose, cough, headache, a hoarse
voice. Symptoms usually last three to five days. Complications can
include sinusitis and acute otitis media .
*
Nasopharyngitis ( common cold ) : include a cough, a runny
nose, nasal congestion and a sore throat, sometimes accompanied
by muscle ache, fatigue, headache, and loss of appetite , The cough is
usually mild compared to that accompanying influenza. While a cough
and a fever indicate a higher likelihood of influenza in adults, a great
deal of similarity exists between these two conditions .
*
Nasal polyp : nasal congestion, sinusitis, anosmia (loss of smell), and
secondary infection leading to headache .
*
Angiofibroma : profuse epistaxis .
*
Nasopharyngeal carcinoma : Swelling of the lymph nodes in the neck is
the initial presentation in many people, Signs and symptoms related to
the primary tumor include trismus, pain, otitis media, nasal
regurgitation due to paresis (loss of or impaired movement) of the soft
palate, hearing loss and cranial nerve palsy (paralysis).
*
larynx
Acute epiglottitis : high fever, sore throat, drooling with dysphagia,
muffled voice, and inspiratory stridor; risk of airway obstruction .
*
Laryngeotracheobronchitis ( croup ) : a hoarse, "barking" cough and
inspiratory stridor .
*
Vocal cord nodules : hoarseness; resolves with resting of voice .
*
Laryngeal papilloma : hoarseness .
*

Laryngeal carcinoma :

Hoarseness or other voice changes


A lump in the neck
A sore throat or feeling that something is stuck in the throat
Persistent cough
Stridor - a high-pitched wheezing sound indicative of a narrowed or
obstructed airway
Bad breath
Earache ("referred")
Difficulty swallowing

Pulmonary infection
Pneumonia : fever and chills, productive cough with yellow-green (pus)
or rusty (bloody) sputum, tachypnea with pleuritic chest pain,
decreased breathSounds , dullness to percussion, and elevated WBC
count.
Pneumonia caused by Legionella may occur with abdominal pain,
diarrhea, or confusion,
pneumonia caused by Streptococcus pneumoniae is associated with
rusty colored sputum,
pneumonia caused by Klebsiella may have bloody sputum often
described as "currant jelly".
Bloody sputum (known as hemoptysis) may also occur with
tuberculosis, Gram-negative pneumonia, and lung abscesses as well as
more commonly with acute bronchitis ,
Mycoplasma pneumonia may occur in association with swelling of the
lymph nodes in the neck, joint pain, or a middle ear infection.
Viral pneumonia presents more commonly with wheezing than does
bacterial pneumonia.
Types :
Lobar
Broncho
Interstitial
Aspiration
*
Acute bronchitis : expectorating cough, shortness of breath (dyspnea),
and wheezing. On occasion, chest pains, fever, and fatigue or
malaise may also occur.
*
Lung abscess : Cough, fever with shivering, and night sweats are often
present. Cough can be productive of foul smelling purulent mucus
(70%) or less frequently with blood in one third of cases).
Affected individuals may also complain of chest pain, shortness of
breath, lethargy and other features of chronic illness.
Those with a lung abscess are generally cachectic at presentation.
Finger clubbing is present in one third of patients. Dental decay is
common especially in alcoholics and children.
*
Tuberculosis : fevers and night sweats, cough with hemoptysis , and
weight loss.
*
Chronic obstructive pulmonary diseases :
Chronic bronchitis : Chronic productive cough lasting at least 3 months
over a minimum of 2 years;
1. Productive cough due to excessive mucus production
2. Cyanosis (' blue bloaters')-Mucus plugs trap carbon dioxide; Paco2
and Pao2 .
Increased risk of infection and cor pulmonale .
*
Emphysema :
1. Dyspnea and cough with minimal sputum
2. Prolonged expiration with pursed lips ('pink-puffer')
3. Weight loss
4. Increased anterior-posterior diameter of chest ('barrel-chest,)
5. Hypoxemia (due to destruction of capillaries in the alveolar sac) and
cor pulmonale are late complications
*.
Asthma : associated with allergic rhinitis, eczema, and a family history
of atopy .
1. Dyspnea and wheezing
2. Productive cough, classically with spiral-shaped mucus plugs
(Curschmann spirals) and eosinophil-derived crystals (Charcot-Leyden
crystals ).
3. Severe, unrelenting attack can result in status asthmaticus and
death.
*
Bronchiectasis :
l. Cough, dyspnea, and foul-smelling sputum
2. Complications include hypoxemia with cor pulmonale and secondary
(AA) amyloidosis.
*
Restrictive diseases :

Idiopathic pulmonary fibrosis :

Age over 50 years


Dry, non-productive cough on exertion
Progressive exertional dyspnea (shortness of breath with exercise)
Dry, inspiratory bibasilar "Velcro like" crackles on auscultation (a
crackling sound in the lungs during inhalation similar to Velcro being
torn apart slowly, heard with a stethoscope).
Clubbing of the digits, a disfigurement of the finger tips or toes (see
image)
*
Pneumoconiosis : cough and shortness of breath
Coal
Silicosis
Brylliosis
Aspestosis
*

Sarcoidosis :
l. Dyspnea or cough (most common presenting symptom)
2. Elevated serum ACE
3. Hypercalcemia (l-alpha hydroxyla e activity of epithelioid histiocytes
converts vitamin D to its active form)
*
Hypersensitivity pneumonitis : fever, cough, and dyspnea hours after
exposure; resolves with removal of the exposure
*
Pulmonary hypertension : severe respiratory distress cyanosis and
RVH death from decompensated cor pulmonale.
*
DVT : pain or tenderness, swelling, warmth, redness or discoloration,
and distention of surface veins, although about half of those with the
condition have no symptoms.
*
Pulmonary embolism : V/Q mismatch, hypoxemia, respiratory
alkalosis. Sudden-onset dyspnea, pleuritic chest pain, tachypnea,
tachycardia. Large emboli or saddle embolus may cause sudden death.
*
Respiratory distress syndrome :
ARDS : shortness of breath, fast breathing, and a low oxygen level in
the blood due to abnormal ventilation .
NRDS :
1. Increasing respiratory effort after birth, tachypnea with use of
accessory muscles, and grunting
2. Hypoxemia with cyanosis
3. Diffuse granularity of the lung ('ground-glass' appearance) on x-ray
*
Sleep apnea : Repeated cessation of breathing > 10 seconds during
sleep disrupted sleep daytime somnolence. Nocturnal hypoxia
systemic/pulmonary hypertension, arrhythmias (atrial fibrillation
/flutter) , sudden death.
Obstructive sleep apnea : Associated with obesity, loud snoring
Central sleep apnea : May be associated with Cheyne-
Stokes respiration
Obesity Hypoventilation syndrome
*
Lung cancers : cough, hemoptysis, bronchial obstruction, wheezing,
pneumonic coin lesion on CXR or noncalcified nodule on CT.
SPHERE of complications:
Superior vena cava syndrome
Pancoast tumor
Horner syndrome
Endocrine (paraneoplastic)
Recurrent laryngeal nerve compression
(hoarseness)
Effusions (pleural or pericardial)
TYPES :
Small cell : May produce ACTH (Cushing syndrome), SIADH, or
Antibodies against presynaptic Ca2+ channels (Lambert-
Eaton myasthenic syndrome) or neurons (paraneoplastic
myelitis, encephalitis, subacute cerebellar degeneration).
Squamous cell : hyperCalcemia (produces PTHrP).
Adenocarcinoma : Associated with hypertrophic
osteoarthropathy (clubbing).
Large cell
Bronchioloalveolar
carcinoid tumor : Symptoms due to mass effect or carcinoid syndrome
(flushing, diarrhea, wheezing).
Metastasis
*
Pancoast tumor pancoast syndrome :
Compression of locoregional structures may cause array of findings:
Recurrent laryngeal nerve hoarseness
Stellate ganglion Horner syndrome (ipsilateral ptosis, miosis,
anhidrosis)
Superior vena cava SVC syndrome
Brachiocephalic vein brachiocephalic syndrome (unilateral
symptoms)
Brachial plexus sensorimotor deficits
*
superior vena cava syndrome :
facial plethora; neck (jugular venous distention), and upper
extremities (edema). Can raise intracranial pressure (if obstruction is
severe) headaches, dizziness, risk of aneurysm/ rupture of
intracranial arteries.
**
Pleura :
Pneumothorax : Dyspnea, uneven chest expansion. Chest pain,
tactile fremitus, hyperresonance, and diminished breath sounds, all on
the affected side.
*
Mesothelioma : result in hemorrhagic pleural
effusion (exudative), pleural thickening .
*
Pleural effusion : Once accumulated fluid is more than 300 mL, there
are usually detectable clinical signs, such as decreased movement of
the chest on the affected side, dullness to percussion over the fluid,
diminished breath sounds on the affected side, decreased vocal
resonance and fremitus (though this is an inconsistent and unreliable
sign), and pleural friction rub
**

Gastrointestinal pathology
Oral cavity :
Clift lip and palate
*
Aphthos ulcer : Painful, superficial ulceration of the oral mucosa ,
Characterized by a grayish base surrounded by erythema .
*
Behcet syndrome : A. Recurrent aphthous ulcers, genital ulcers, and
uveitis .
*
Oral herpes : Vesicles involving oral mucosa that rupture, resulting in
shallow, painful, red ulcers
*

Squamous cell carcinoma :


Oral leukoplakia and erythroplakia are precursor lesions.
l. Leukoplakia is a white plaque that cannot be scraped away; often
represents
squamous cell dysplasia
2. Leukoplakia is distinct from oral candidiasis (thrush) and hairy
leukoplakia.
i. Oral candidiasis is a white deposit on the tongue, which is easily
scraped away; usually seen in immunocompromised states
ii. Hairy leukoplakia is a white, rough ('hairy') patch that arises on the
lateral tongue. It is usually seen in immunocompromised individuals
(e.g., AIDS) and is due to EBV-induced squamous cell hyperplasia; not
pre malignant
3. Erythroplakia (red plaque) represents vascularized leukoplakia and is
highly suggestive of squamous cell dysplasia.
*
Salivary gland
Mumps : prodromal symptoms including low-grade fever, headache,
and malaise. This is followed by progressive swelling of one or
both parotid glands. Parotid gland swelling usually lasts about one
week. Other symptoms of mumps can include dry mouth, sore face
and/or ears and some patients find it difficult to talk
Complications
Painful testicular inflammation
spontaneous abortion

Meningitis

Ovarian inflammation

Acute pancreatic inflammation


hearing loss
*

Sialadenitis :
Painful swelling
Reddened skin
Edema of the cheek, Periorbital region and neck
low grade fever
malaise
raised ESR, CRP, leucocytosis
purulent exudate from duct punctum
*
Pleomorphoic adenoma : presents as a mobile, painless, circumscribed
mass at the angle of the jaw
*
Warthin tumor : The tumor is slow growing, painless, and usually
appears in the tail of the parotid gland near the angle of the mandible .
*
Mucoepidermoid carcinoma : painless, slow-growing mass that is firm
or hard .
*
Esophagus
Tracheoesophageal fistula : vomiting , polyhydramnios , abdominal
distension, and aspiration
*
Esophageal atresia (EA) with distal tracheoesophageal fistula (TEF) is
the most common : Neonates drool, choke, and vomit with first
feeding , Cyanosis is 2 to laryngospasm .
*
Boerhave syndrome : severe retching and vomiting followed by
excruciating retrosternal chest and upper abdominal pain,Odynophagia
, tachypnea , dyspnea , cyanosis, fever, and shock develop rapidly
thereafter .
Mackler's triad includes chest pain, vomiting, and subcutaneous
emphysema Pain can occasionally radiate to the left shoulder .
*
Esophagitis :

Heartburn (pain in chest - retrosternal)


Nausea
Postprandial worsening of symptoms
Symptoms may be relieved by antacids. Esophagitis causes symptoms
of abdominal pain and vomiting. If not treated, it causes discomfort
and scarring of the esophagus. This makes swallowing food more
difficult
*
Eosinophilic esophagitis : Food allergens dysphagia,
food impaction .
*
Stricture : heartburn, bitter or acid taste in the mouth, choking,
coughing, shortness of breath, frequent burping or hiccups, pain or
trouble swallowing, throwing up blood, or weight loss .
*
Esophageal web : dysphagia for poorly chewed food
*
Zenker diverticulum : dysphagia, obstruction, and halitosis (bad
breath) , gurgling , aspiration, neck mass. .
*
Mallory-weiss syndrome : hematemesis and may be misdiagnosed as
ruptured esophageal varices .
*
Esophageal varices : asymptomatic , but there is risk of painless
hematemesis .
*
Achalasia : progressive dysphagia to solids and liquids (vs obstruction
solids only).
*
Gastroesophageal reflux disease : heartburn, regurgitation, dysphagia.
May also present as chronic cough, hoarseness (laryngopharyngeal
reflux), Damage to enamel of teeth. Associated with asthma .
*

Barret esophagus :
frequent and longstanding heartburn
trouble swallowing (dysphagia)
vomiting blood (hematemesis)
pain under the sternum where the esophagus meets the stomach
unintentional weight loss because eating is painful (odynophagia)
*
May progress to dysplasia and adenocarcinoma .
* Esophageal carcinoma : Symptoms include progressive dysphagia
(solids to liquids), weight loss, pain, and hematemesis , hoarse voice
(recurrent Laryngeal nerve involvement) and cough (tracheal
involvement).
*
Plummer Vinson syndrome : Triad of Dysphagia, Iron deficiency
anemia, and Esophageal webs. May be associated with glossitis.
Increased risk of esophageal squamous cell carcinoma
*
Sclerodermal esophageal dysmotility : acid reflux and dysphagia
stricture, Barrett esophagus, and aspiration
**
**
Stomach
Gastroschisis : a defect in the anterior abdominal wall through which
the abdominal contents freely protrude. There is no overlying sac or
peritoneum, and the size of the defect is usually less than 4
centimetres (1.6 in). The abdominal wall defect is located at the
junction of the umbilicus and normal skin, and is almost always to the
right of the umbilicus .
*
Omphalocele : a rare abdominal wall defect in which
the intestines, liver, and occasionally other organs remain outside of
the abdomen in a sac because of a defect in the development of
the muscles of the abdominal wall (exomphalos) associated with a
high rate of mortality (25%) and severe malformations, such as cardiac
anomalies (50%) and neural tube defect (40%)
*
Congenital abdominal hernia : incomplete closure of umbilical ring.
*

Pyloric stenosis :
presents two weeks after birth as
l. Projectile non bilious vomiting
2. Visible peristalsis
3. Olive-like mass in the abdomen , visible peristaltic waves
Results in hypokalemic hypochloremic metabolic alkalosis (2 to
vomiting of gastric acid and subsequent volume
contraction).
*
Gastritis : Many people with gastritis experience no symptoms at all.
However, upper central abdominal pain is the most common symptom;
the pain may be dull, vague, burning, aching, gnawing, sore, or sharp
. Pain is usually located in the upper central portion of the abdomen,
but it may occur anywhere from the upper left portion of the abdomen
around to the back.
Other signs and symptoms may include the following:
Nausea , Vomiting (if present, may be clear, green or yellow, blood-
streaked, or completely bloody, depending on the severity of the
stomach inflammation) , Belching (if present, usually does not relieve
the pain much) , Bloating , Early satiety , Loss of appetite , Unexplained
weight loss .
Acute gastritis
Chronic gastritis
*
Peptic ulcer :
Duodenal : Presents with epigastric pain that improves with meals , no
loss of appetite , weight gain .
Gastric : Presents with epigastric pain that worsens with meals , loss of
appetite , weight loss .
*
Gastric carcinoma : presents late with weight loss, abdominal pain,
anemia, and early satiety; rarely presents as acanthosis nigricans or
Leser-Trelat sign
. Spread to lymph nodes can involve the left supraclavicular node
(Virchow node).
. Distant metastasis most commonly involves liver; other sites include :
1. Periumbilical region (Sister Mary Joseph nodule); seen with intestinal
type
2. Bilateral ovaries (Krukenberg tumor); seen with diffuse type
*
Menetrier disease : upper abdominal pain (epigastric), at times
accompanied by nausea, vomiting, loss of appetite, edema, and weight
loss. A small amount of gastrointestinal bleeding may occur , a protein-
losing gastropathy accompanied by low blood albumin and edema.
**
Small bowel
Intestinal atresia :. Presents with bilious vomiting and abdominal
distension within first 12 days of life. Hyperbilirubinemia is also
common jaundice .
Duodenal atresia : Associated with Down syndrome
Jejunal ileal atresia
*
Superior mesenteric artery syndrome : intermittent intestinal
obstruction symptoms (primarily postprandial pain) when transverse
(third) portion of duodenum is compressed between SMA and aorta .
*
Meckel diverticulm : Can present during the first 2 years of life with
bleeding : melena/ hematochezia (due to heterotopic gastric mucosa),
RLQ pain, volvulus, intussusception, or obstruction (mimics
appendicitis);
however, most cases are asymptomatic.
*
Diverticulosis : Often asymptomatic or associated with vague
discomfort.
Complications include diverticular bleeding (painless hematochezia),
diverticulitis.
*
Diverticulitis : LLQ pain, fever, leukocytosis , Complications: abscess,
fistula (colovesical fistula pneumaturia), obstruction (inflammatory
stenosis), perforation ( peritonitis).
*
Volvulus :
volvulus causes symptoms by two mechanisms:
Bowel obstruction manifested as abdominal distension and bilious
vomiting.
Ischemia (loss of blood flow) to the affected portion of intestine.
Depending on the location of the volvulus, symptoms may vary. For
example, in patients with a cecal volvulus, the predominant symptoms
may be those of a small bowel obstruction (nausea, vomiting and lack
of stool or flatus)
In patients with a sigmoid volvulus, although abdominal pain may be
present, symptoms of constipation may be more prominent.
Volvulus causes severe pain and progressive injury to the intestinal
wall, with accumulation of gas and fluid in the portion of the bowel
obstructed. Ultimately, this can result in necrosis of the affected
intestinal wall, acidosis, and death
*
Intussusceptions : periodic abdominal pain , nausea , vomiting
(sometimes green in color from bile), pulling legs to the chest area,
and intermittent moderate to severe cramping abdominal pain , rectal
bleeding, often with "red currant jelly" stool (stool mixed with blood
and mucus), and lethargy . intussusception can cause a loop of bowel
to become necrotic, secondary to ischemia due to compression to
arterial blood supply. This leads to perforation and sepsis, which causes
fever.
*
Acute mesenteric ischemia : abdominal pain out of proportion to
physical findings. May see red currant jelly stools.
*
Adhesion : most common cause of small bowel Obstruction
*

Ilius : constipation and flatus; distended/tympanic abdomen with


bowel sounds
*
Meconium ileus : There is normally a delay in your baby passing
meconium (black sticky stool normally passed within 24 hours of
delivery) and your baby may also be reluctant to feed and may vomit a
green fluid called bile which would normally pass through the bowel.
Your baby may be uncomfortable because of constipation and trapped
air in the bowel and the abdomen (tummy) will become distended.
Some babies present at delivery with a distended abdomen and may be
unwell due to infection around the bowel.
*
Necrotizing enterocolitis : feeding intolerance, increased gastric
residuals, abdominal distension and bloody stools. Symptoms may
progress rapidly to abdominal discoloration with intestinal perforation
and peritonitis and systemic hypotension requiring intensive medical
support.
*
Small bowel infarction : transmural and mucosal : include abdominal
pain, bloody diarrhea, and decreased bowel sounds.
*
Lactose intolerance : abdominal distension and diarrhea upon
consumption of milk products; undigested lactose is osmotically active
with stool pH
*
Celiac disease :
1. Children classically present with abdominal distension, diarrhea, and
failure to thrive.
2. Adults classically present with chronic diarrhea ( steatorrhea ) and
bloating.
3. Small, herpes-like vesicles may arise on skin (dermatitis
herpetiformis). Due to IgA deposition at the tips of dermal papillae;
resolves with gluten-free diet
4. bone density
*
Tropical spru : Similar findings as celiac sprue .
*
Whipple disease : Cardiac symptoms, Arthralgias, and Neurologic
symptoms are common. Diarrhea/steatorrhea occur later in disease
course.
*
Disacchridase deficiency : carbohydrate intolerance induced by
bacterial fermentation of undigested sugars which are delivered to the
colon. Abdominal symptoms (e.g. nausea, bloating, distension, colicky
pain, watery diarrhoea) are usually noticed within an hour of the
ingestion of foods containing the offending sugars.
*
Pancreatic insufficiency :
Loss of Pancreatic enzymes leads to maldigestions and malabsorption
which may lead to:
steatorrhea
weight loss
fatigue
flatulence and abdominal distention (bacterial fermentation of
unabsorbed food)
edema (hypoalbuminemia)
anemia (B-12, Iron, folic acid deficiency)
bleeding disorders (vitamin K malabsorption)
Metabolic bone disease (Vitamin D deficiency)
neurologic manifestation
hypocalcemia
*
Abetalipoproteinemia : failure to gain weight and grow at the
expected rate (failure to thrive); diarrhea; abnormal star-shaped red
blood cells (acanthocytosis); and fatty, foul-smelling stools
(steatorrhea).
1. Malabsorption-due to defective chylomicron formation (requires B-
48)
2. Absent plasma VLDL and LDL (require B-100) .
poor muscle coordination, difficulty with balance and movement
(ataxia), and progressive degeneration of the retina (the light-sensitive
layer in the posterior eye) that can progress to near-blindness (due to
deficiency of vitamin A, retinol).
*
Carcinoid tumor : Carcinoid syndrome is characterized by
bronchospasm, diarrhea, and flushing of skin; symptoms can be
triggered by alcohol or emotional stress, which stimulate serotonin
release from the tumor.
Carcinoid heart disease is characterized by right-sided valvular fibrosis
(increased collagen) leading to tricuspid regurgitation and pulmonary
valve stenosis; left-sided valvular lesions are not seen due to presence
of monoamine oxidase (metabolizes serotonin) in the lung.
*
Malrotation : Patients (often infants) present acutely with midgut
volvulus, manifested by bilious vomiting, crampy abdominal pain,
abdominal distention, and the passage of blood and mucus in
their stools. Patients with chronic, uncorrected malrotation can have
recurrent abdominal pain and vomiting.
Malrotation can also be asymptomatic.
*

Appendix
Acute appendicitis :
l. Periumbilical pain, fever, and nausea; pain eventually localizes to
right lower quadrant (McBurney point).
2. Rupture results in peritonitis that presents with guarding and
rebound Tenderness ; may elicit psoas, obturator, and Rovsing signs,
on exam.
3. Periappendiceal abscess is a common complication.
Obturator sign: The person being evaluated lies on her or his back with
the hip and knee both flexed at ninety degrees. The examiner holds the
person's ankle with one hand and knee with the other hand. The
examiner rotates the hip by moving the person's ankle away from his
or her body while allowing the knee to move only inward. A positive
test is pain with internal rotation of the hip.
Psoas sign, also known as "Obraztsova's sign", is right lower-quadrant
pain that is produced with either the passive extension of the right hip
or by the active flexion of the person's right hip while supine. The pain
that is elicited is due to inflammation of the peritoneum overlying the
iliopsoas muscles and inflammation of the psoas muscles themselves.
Straightening out the leg causes pain because it stretches these
muscles, while flexing the hip activates the iliopsoas and causes pain.
Rovsing's sign: Pain in the lower right abdominal quadrant with
continuous deep palpation starting from the left iliac fossa upwards
(counterclockwise along the colon). The thought is there will be
increased pressure around the appendix by pushing bowel contents
and air toward the ileocaecal valve provoking right-sided abdominal
pain.
*

Inflammatory bowel diseases


ulcerative colitis : Left lower quadrant pain (rectum) with Bloody
diarrhea , Rash (pyoderma gangrenosum, erythema nodosum), eye
inflammation (episcleritis, uveitis), oral ulcerations (aphthous
stomatitis), arthritis (peripheral, spondylitis). , 1 sclerosing cholangitis.
Complications : Fulminant colitis, toxic megacolon, perforation.
*
chron disease : Right lower quadrant pain (ileum) with Diarrhea that
may or may not be bloody , Rash (pyoderma gangrenosum, erythema
nodosum), eye inflammation (episcleritis, uveitis), oral ulcerations
(aphthous stomatitis), arthritis (peripheral, spondylitis).
Kidney stones (usually calcium oxalate), gallstones.
Complications : Malabsorption/malnutrition, colorectal cancer ( risk
with pancolitis). Fistulas (eg, enterovesical fistulae, which can cause
recurrent UTI and pneumaturia), phlegmon/abscess, strictures (causing
obstruction), perianal disease.

*
colon
colonic atresia : intestinal obstruction .
*
hirschprung disease : bilious emesis, abdominal distention , and failure
to pass meconium within 48 hours chronic constipation.
Normal portion of the colon proximal to the aganglionic segment is
dilated, resulting in a transition zone. Explosive expulsion of feces
(squirt sign) empty rectum on digital exam.
*
colonic diverticula : Usually asymptomatic; complications include
1. Rectal bleeding (hematochezia)
2. Diverticulitis-due to obstructing fecal material; presents with
appendicitis-like symptoms in the left lower quadrant
3. Fistula-Inflamed diverticulum ruptures and attaches to a local
structure.
Colovesicular fistula presents with air (or stool) in urine.
*
Angiodysplasia : Rupture classically presents as hematochezia in an
older adult.
*
heridetary hemorrhagic telangiectasia : Rupture presents as bleeding.
*
ischemic colitis : postprandial pain and weight loss; infarction results
in pain and bloody diarrhea.
*
irritable bowel syndrome : Relapsing abdominal pain with bloating,
flatulence, and change in bowel habits (diarrhea or constipation) that
improves with defecation; classically seen in middleaged Females
*
colonic polyps :
familial adenomatous polyposis : characterized by lOOs to 1000s of
adenoma to us colonic polyps
gardener synd. : FAP + osseous and soft tissue tumors, congenital
hypertrophy of retinal pigment epithelium,
impacted/supernumerary teeth.
Juvenile polyposis synd. Hamartomatous (benign) polyps throughout
GI tract and mucocutaneous hyperpigmentation (freckle-like spots) on
lips, oral mucosa , and genital skin;. Associated with risk of CRC.
Peutz jegher synd. : numerous hamartomas throughout GI tract, along
with hyperpigmented mouth, lips, hands, genitalia. Associated with
risk of breast and GI cancers (eg, colorectal, stomach, small bowel,
pancreatic).
Turcot syndrome : FAP/Lynch syndrome + malignant CNS tumor (eg,
medulloblastoma, glioma).
Colorectal carcinoma : Rectosigmoid > ascending > descending.
Ascendingexophytic mass, iron deficiency anemia, weight loss.
Descendinginfiltrating mass, partial obstruction, colicky pain,
hematochezia.
Rarely, presents with S bovis (gallolyticus) bacteremia.
Lynch syndrome : Associated with endometrial, ovarian, and skin
cancers.
**
External hemorrhoides : If not thrombosed, external hemorrhoids may
cause few problems. However, when thrombosed, hemorrhoids may
be very painful. Nevertheless,. A skin tag may remain after healing. If
hemorrhoids are large and cause issues with hygiene, they may
produce irritation of the surrounding skin, and thus itchiness around
the anus.
Internal hemorrhoids : painless, bright red rectal bleeding during or
following a bowel movement. The blood typically covers the stool (a
condition known as hematochezia), is on the toilet paper, or drips into
the toilet bowl. The stool itself is usually normally coloured . Other
symptoms may include mucous discharge, a perianal mass if
they prolapse through the anus, itchiness, and fecal incontinence .
*
Anal fissure : Pain while Pooping; blood on toilet Paper
*
Hernias :
Diaphragmatic : Abdominal structures enter the thorax .
Sliding hiatal hernia : the stomach herniates upward through the
esophageal hiatus of the diaphragm.
Paraesophageal hernia : Gastroesophageal junction is displaced
upward; hourglass stomach.
hiatal hernia : gastroesophageal junction is usually normal. Fundus
protrudes into the thorax.
Indirect : Goes through the internal (deep) inguinal ring,
external (superficial) inguinal ring, and into the scrotum. Enters internal
inguinal ring lateral to inferior epigastric vessels
Direct : Protrudes through the inguinal (Hesselbach)
triangle. Bulges directly through parietal peritoneum medial to the
inferior epigastric vessels but lateral to the rectus abdominis.
Goes through the external (superficial) inguinal ring only. Covered by
external spermatic fascia .
Femoral hernia : Protrudes below inguinal ligament through femoral
canal below and lateral to pubic Tubercle .

Exocrine pancrease , gallbladder , liver


Exocrine pancrease
Annular pancreas : Newborns may not tolerate feedings. They may spit
up more than normal, not drink enough breast milk or formula, and
cry.
Adult symptoms may include:
Fullness after eating
Nausea or vomiting
*
Pancrease divisum : chronic abdominal pain and/or pancreatitis.
*
Acute pancreatitis : Clinical features
1. Epigastric abdominal pain that radiates to the back
2. Nausea and vomiting
3. Periumbilical and flank hemorrhage (necrosis spreads into the
periumbilical soft tissue and retroperitoneum)
4. Elevated serum lipase and amylase; lipase is more specific for
pancreatic damage.
5. Hypocalcemia (calcium is consumed during saponification in fat
necrosis)
Complications
1. Shock-due to peri pancreatic hemorrhage and fluid sequestration
2. Pancreatic pseudocyst-formed by fibrous tissue surrounding
liquefactive necrosis and pancreatic enzymes
i. Presents as an abdominal mass with persistently elevated serum
amylase
ii. Rupture is associated with release of enzymes into the abdominal
cavity and hemorrhage.
3. Pancreatic abscess-often due to E coli; presents with abdominal pain,
high fever, and persistently elevated amylase
4.DIC and ARDS
*
Chronic pancreatitis :
1. Epigastric abdominal pain that radiates to the back
2. Pancreatic insufficiency-results in malabsorption with steatorrhea
and fatsoluble vitamin deficiencies. Amylase and lipase are not useful
serologic markers of chronic pancreatitis.
3. Dystrophic calcification of pancreatic parenchyma on imaging;
contrast studies reveal a 'chain of lakes' pattern due to dilatation of
pancreatic ducts.
4.diabetes mellitus .
*
Pancreatic carcinoma :
l. Epigastric abdominal pain radiating to back and weight loss (due to
malabsorption and anorexia)
2. Obstructive jaundice with pale stools and palpable nontender
gallbladder (Courvoisier sign); associated with
tumors that arise in the head of the pancreas (most common location)
3. Secondary diabetes mellitus; associated with tumors that arise in the
body or tail
4. Pancreatitis
5. Migratory thrombophlebitis (Trousseau sign); presents as swelling,
erythema, and tenderness in the extremities (seen in 10% of patients)
(Trousseau syndrome)
6. Serum tumor marker is CA 19-9.

*
Gall bladder and biliary tract
Biliary atresia : Presents with jaundice and progresses to cirrhosis .
*
biliary tract disease : pruritus, jaundice, dark urine, light-colored stool,
hepatosplenomegaly. Typically with cholestatic pattern of LFTs (
conjugated bilirubin, cholesterol, ALP).
Types :
Primary biliary cirrhosis : Classically in middle-aged men
with IBD. Associated with ulcerative colitis .
Secondary biliary cirrhosis : Patients with known obstructive lesions
(gallstones, biliary strictures , pancreatic carcinoma).
Primary sclerosing cholangitis : Classically in middle-aged
women. Associated with other autoimmune conditions
(eg, Sjgren syndrome, Hashimoto thyroiditis, CREST, rheumatoid
arthritis , celiac disease).
*
Cholelithiasis : usually asymptomatic; complications include biliary
colic, acute and chronic cholecystitis, ascending cholangitis, gallstone
ileus, and gallbladder cancer.
Types :
Cholesterol stones : Associated with obesity, Crohn disease,
advanced age, estrogen therapy, multiparity,
rapid weight loss, Native American origin.
Pigment stones : Associated with Crohn disease,
chronic hemolysis, alcoholic cirrhosis, advanced age, biliary infections,
total parenteral nutrition (TPN).
*
Biliary colic : Associated with nausea/vomiting and dull RUQ pain .
*
Acute cholecystitis : right upper quadrant pain, often radiating to right
scapula, fever with WBC count, nausea , vomiting, and i serum
alkaline phosphatase (from duct
damage) . Risk of rupture if left untreated .
*
Chronic cholecystitis : vague right upper quadrant pain, especially after
eating .
*
Ascending cholangitis : Charcot triad of cholangitis:
Jaundice
Fever ( and chills )
RUQ pain
Reynolds pentad adds:
Altered mental status
Shock (hypotension)
*
Gall stone ileus : Can cause fistula between gallbladder and GI tract
air in biliary tree (pneumobilia) passage of gallstones into intestinal
tract obstruction of ileocecal valve (gallstone ileus).
findings are known as Rigler's triad: pneumobilia (air within the biliary
tree) , evidence of small bowel obstruction , radiopaque gallstone on
abdominal radiograph .

*
Gall bladder carcinoma : Steady pain in the upper right abdomen ,
Indigestion Dyspepsia (gas) , Bile (dark green color) in vomit.
Weakness , Loss of appetite , Weight loss ,
Jaundice and vomiting due to obstruction .
Early symptoms mimic gallbladder inflammation due to gallstones.
Later, the symptoms may be that of biliary and stomach obstruction.
*
Porcelain gallbladder : Calcified gallbladder due to chronic
cholecystitis; usually found incidentally on imaging . high risk of
carcinoma .
Liver
Jaundice : Yellow discoloration ofthe skin , earliest sign is scleral
icterus (yellow discoloration of the sclera) :
Paravascular hemolysis / ineffective erythropoiesis : Dark urine due
tot urine urobilinogen (UCB is not water soluble and, thus, is absent
from urine) Increased risk for pigmented bilirubin gallstones .
*
Physiologic jaundice of the newborn : UCB is fat soluble and can
deposit in the basal ganglia (kernicterus) leading to neurological
deficits and death .
*
Gilbert syndrome : jaundice during stress (e.g., severe infection ,
fasting ); otherwise, not clinically significant .
*
Criggler najjar syndrome : Kernicterus; usually fatal .
*
Dubin Johnson syndrome : Liver is dark; otherwise, not clinically
significant . Rotor syndrome is similar to Dubin-johnson syndrome, but
lacks liver discoloration .
*
Biliary tract obstruction : Dark urine (due to bilirubinuria) and pale
stool Pruritus due to plasma bile acids , Hypercholesterolemia with
xanthomas , Steatorrhea with malabsorption of fat-soluble Vitamins .
*
Viral hepatitis : Dark urine due tot urine bilirubin; urine urobilinogen is
normal or decreased.
**
Spontaneous bacterial peritonitis : Often asymptomatic, but can cause
fevers, chills, abdominal pain, ileus,
or worsening encephalopathy.
*
Viral hepatitis :
Acute hepatitis : episodes of fever , fatigue , nausea , appetite loss ,
abdominal discomfort , jaundice , dark urine , AST , ALT .
Chronic hepatitis is characterized by symptoms that last > 6 months,
Inflammation predominantly involves portal tract , Risk of progression
to cirrhosis
Hepatitis A and E : Acute hepatitis; no chronic state. HEV infection in
pregnant women is associated with fulminant hepatitis (liver failure
with massive liver necrosis).
Hepatitis B : Results in acute hepatitis; chronic disease occurs in 20% of
cases
Hepatitis C : Results in acute hepatitis; chronic disease occurs in most
cases .
Hepatitis D : Dependent on HBV for infection; superinfection upon
existing HBV is more severe than
coinfection (infection with HBV and HDV at the same time) .
*
Cirrhosis : portal hypertension and liver cell failure .
*
Portal hypertension :
i. Ascites (fluid in the peritoneal cavity)
ii. Congestive splenomegaly/hypersplenism
iii. Portosystemic shunts (esophageal varices, hemorrhoids, and caput
medusae)
iv. Hepatorenal syndrome (rapidly developing renal failure secondary
to cirrhosis) .
*
Liver cell failure :
Testicular atrophy , Gynecomastia , Amenorrhea Cardiomyopathy ,
Peripheral edema , Hyperbilirubinemia , Hyponatremia , Hepatorenal
syndrome , Thrombocytopenia , Anemia , Coagulation disorders ,
Anorexia , Nausea, vomiting , Dull abdominal pain , Fetor hepaticus ,
Hepatic encephalopathy , Asterixis (flapping tremor) , and eventual
coma (due to serum ammonia) , Jaundice , Spider angiomas , Palmar
erythema due to hyperestrinism, Purpura , Petechiae .
*

Alcohol related diseases :


A / alcoholic Fatty liver : a heavy, greasy liver; resolves with abstinence
.
B / alcoholic Hepatitis : painful hepatomegaly and elevated liver
enzymes (AST > ALT); may result in death .
C / alcoholic Cirrhosis : chronic alcohol-induced liver damage; occurs in
10-20% of alcoholic
*
Non alcoholic fatty liver disease: Fatty change, hepatitis, and/or
cirrhosis that develop without exposure to alcohol (or other known
insult) , Associated with obesity . Metabolic syndrome (insulin
resistance); obesity fatty infiltration of hepatocytes
*
Hemochromatosis : Presents after age 40 when total body iron > 20 g;
iron loss through menstruation slows progression in women. Classic
triad of cirrhosis, diabetes mellitus, skin pigmentation (bronze
diabetes ). Also causes restrictive cardiomyopathy (classic) or dilated
cardiomyopathy (reversible), hypogonadism, arthropathy (calcium
pyrophosphate deposition; especially metacarpophalangeal joints).
HCC is common cause of death.
*
Hepatic encephalopathy : ranging from disorientation /asterixis (mild)
to difficult arousal or coma (severe). Triggers:
NH3 production and absorption (due to dietary protein, GI bleed,
constipation, infection).
NH3 removal (due to renal failure, diuretics, bypassed hepatic
blood flow post-TIPS).
*
Wilson disease : Presents before age 40 with liver disease (eg,
hepatitis, acute liver failure, cirrhosis), neurologic disease (eg,
dysarthria, dystonia, tremor, parkinsonism), psychiatric disease,
Kayser-Fleischer rings (deposits in Descemet membrane of cornea) A ,
hemolytic anemia, renal disease (eg, Fanconi syndrome).
*
Reye syndrome : fatal childhood hepatic encephalopathy. Findings:
mitochondrial abnormalities, fatty liver (microvesicular fatty change),
hypoglycemia, vomiting, hepatomegaly, coma. Associated with viral
infection (especially VZV and influenza B) that has been treated with
aspirin .
*
Cavernous hemangioma :Usually liver cavernoma patients are
asymptomatic.
Major

Pain in the upper right abdomen


Minor

Feeling full after eating only a small amount of food

Lack of appetite
Nausea

Vomiting
*
Hepatic adenoma : pain in the right upper quadrant or
epigastric region of the abdomen , patients may notice a palpable
mass , If not treated, there is a 30% risk of bleeding. Bleeding may lead
to hypotension, tachycardia , and sweating (diaphoresis).
*
Angiosarcoma : vague complaints of abdominal pain, weakness,
fatigue, and weight loss.Only 10% of individuals have edema initially.
*

Hepatocellular carcinoma : Most cases of hepatocellular carcinoma


occur in people who already have symptoms of chronic liver disease
and present either with worsening of symptoms or during surveillance
that is used to screen patients who are at risk the most. In other cases,
HCC may directly present with yellow skin, bloating from fluid in the
abdomen, easy bruising from blood clotting abnormalities , loss of
appetite, unintentional weight loss, abdominal pain especially in the
right upper quadrant , nausea , vomiting , or feeling tired.
*
Metastasis to liver : GI malignancies, breast and lung cancer , may be
detected as hepatomegaly with a nodular free edge of the liver .
*
Budd chiary syndrome : congestive liver disease (hepatomegaly,
ascites, varices, abdominal pain, liver failure). Absence of JVD.
Associated with hypercoagulable states, polycythemia vera,
postpartum state, HCC.
*
1 antitrypsin deficiency : Often presents in young patients with liver
damage and dyspnea without a history of smoking.

kidney and urinary tract pathology


congenital
horseshoe kidney : Kidneys function normally. Associated
with hydronephrosis (eg, ureteropelvic junction obstruction ) , renal
stones, infection, chromosomal aneuploidy syndromes (eg, Turner
syndrome; trisomies 13, 18, 21), and rarely renal cancer.
*
renal agenesis :
Unilateral agenesis leads to hypertrophy of the existing kidney;
hyperfiltration , increases risk of renal failure later in life.
Bilateral agenesis leads to oligohydramnios with lung hypoplasia, flat
face with low set ears, and developmental defects of the extremities
(Potter sequence );incompatible with life .
*
dysplastic kidney : Those with bilateral disease often have other severe
deformities or polysystemic malformation syndromes. In bilateral
cases, the newborn has the classic characteristic of Potter's syndrome .
*
polycystic kidney disease :
ADPKD : presents in young adults as hypertension (due to
increased renin), hematuria, and worsening renal failure. Associated
with berry aneurysm, hepatic cysts, and mitral valve prolapsed .
ARPKD : presents in infants as worsening renal failure and
hypertension; newborns may present with Potter sequence .
Associated with congenital hepatic fibrosis (leads to portal
hypertension) and hepatic cysts .
*
medullary cystic kidney disease : Parenchymal fibrosis results in
shrunken kidneys and worsening renal failure.
*
simple vs complex renal cysts .
*
potter sequence (syndrome ) : Oligohydramnios compression of
developing fetus limb deformities, facial anomalies (eg, low-set ears
and retrognathia , flattened nose), compression of chest and lack of
amniotic fluid aspiration into fetal lungs pulmonary hypoplasia
(cause of death).
*
duplex collecting system : Strongly associated with vesicoureteral
reflux and/or ureteral obstruction , risk for UTIs.
*
Congenital solitary functioning kidney : Majority asymptomatic with
compensatory hypertrophy of contralateral kidney, but anomalies in
contralateral kidney are common.
*
Posterior urethral valves : diagnosed prenatally by hydronephrosis and
dilated or thick-walled bladder
on ultrasound. Most common cause of bladder outlet obstruction in
male infants.
*
hartnup disease : manifests during infancy with variable clinical
presentation: failure to thrive, photosensitivity, intermittent
ataxia, nystagmus, and tremor.
**
Acute renal failure :
Metabolic Acidosis
Dyslipidemia (especially triglycerides)
Hyperkalemia
Uremiaclinical syndrome marked by
BUN:
Nausea and anorexia
Pericarditis
Asterixis
Encephalopathy
Platelet dysfunction
Na+/H2O retention (HF, pulmonary edema,
hypertension)
Growth retardation and developmental delay
Erythropoietin failure (anemia)
Renal osteodystrophy .
*
Prerenal : Due to RBF (eg, hypotension)
Postrenal : outflow obstruction (stones, BPH, neoplasia, congenital
anomalies). Develops only with bilateral obstruction .
Acute tubular necrosis : Generally due to acute tubular necrosis or
ischemia/toxins; less commonly due to acute glomerulonephritis(eg,
RPGN, hemolytic uremic syndrome ) or acute interstitial nephritis.
3 stages :
1. Inciting event
2. Maintenance phaseoliguric; lasts 13 weeks; risk of hyperkalemia,
metabolic acidosis, uremia
3. Recovery phasepolyuric; BUN and serum creatinine fall; risk of
hypokalemia
*
Chronic renal failure :
1. Uremia-Increased nitrogenous waste products in blood (azotemia)
result in nausea, anorexia, pericarditis, platelet dysfunction,
encephalopathy with asterixis, and deposition of urea crystals in skin.
2. Salt and water retention with resultant hypertension
3. Hyperkalemia with metabolic acidosis
4. Anemia due to decreased erythropoietin production by renal
peritubular interstitial cells
5. Hypocalcemia due to decreased 1-alpha-hydroxylation of vitamin D
by proximal renal tubule cells and hyperphosphatemia
6. Renal osteodystrophy due to secondary hyperparathyroidism ,
osteomalacia, and osteoporosis
*
Acute interstitial nephritis : Presents as oliguria, fever, and rash days
to weeks after starting a drug; eosinophils may be seen in urine.
*
Renal papillary necrosis : Presents with gross hematuria and flank pain
.
*
Renal tubular defects :
Fanconi : result in metabolic acidosis (proximal renal tubular acidosis).
Barter : Results in hypokalemia and metabolic alkalosis with
hypercalciuria , Presents similarly to chronic loop
diuretic use.
Gitelman : Leads to hypokalemia, hypomagnesemia, metabolic
alkalosis, hypocalciuria. Similar to using life-long thiazide diuretics
Liddle : Results in hypertension, hypokalemia, metabolic alkalosis,
aldosterone. Presents like hyperaldosteronism
Syndrome of apparent mineralocorticoid excess : hypertension,
hypokalemia, metabolic alkalosis. Low serum aldosterone levels.
*
Metabolic acidosis : chest pain, palpitations, headache, altered mental
status such as severe anxiety due to hypoxia, decreased visual acuity
, nausea , vomiting , abdominal pain, altered appetite and weight gain
, muscle weakness, bone pain, and joint pain. Those in metabolic
acidosis may exhibit deep, rapid breathing called Kussmaul respirations
which is classically associated with diabetic ketoacidosis. Extreme
acidemia leads to neurological and cardiac complications:
Neurological: lethargy, stupor, coma, seizures .
Cardiac: arrhythmias (ventricular tachycardia) and decreased response
to epinephrine, both leading to hypotension .
*
Respiratory acidosis
*
Metabolic alkalosis : slower breathing, or hypoventilation (respiratory
compensation) .
*
Respiratory alkalosis : Palpitation
Tetany
Convulsion
Sweating

*
Renal tubular acidosis :
Distal type 1 : metabolic acidosis. Associated with hypokalemia, risk
for calcium phosphate kidney stones .
Proximal type 2 : subsequent metabolic acidosis.
Associated with hypokalemia, risk for hypophosphatemic rickets.
Hyperkalemic type 3 : Hypoaldosteronism hyperkalemia .
*
Nephrotic syndrome : massive proteinuria (> 3.5 g/day) with
hypoalbuminemia, resulting edema, hyperlipidemia. Frothy urine with
fatty casts. Associated with hypercoagulable state (eg,
thromboembolism) due to antithrombin (AT) III loss in urine and
risk of infection (due to loss of immunoglobulins in urine and soft tissue
compromise by edema).
*

Minimal change disease : Rarely, may be 2 to lymphoma


Focal segmental glomerulosclerosis : may be 2 to other conditions
(eg, HIV infection, sickle cell disease, heroin abuse, massive obesity,
interferon treatment, chronic kidney disease due to congenital
malformations). May progress to chronic renal disease.
*
Membranous nephropathy : may be 2 to drugs (eg, NSAIDs,
penicillamine, gold), infections (eg, HBV , HCV, syphilis), SLE, or solid
tumors. May progress to chronic renal disease.
*
Diabetes nephropathy : Most common cause of end-stage renal
disease in the United States.
*
Systemic amyloidosis : Associated with chronic conditions that
predispose to amyloid deposition (eg, AL amyloid, AA amyloid).

*
Nephritic syndrome : hematuria and RBC casts in urine. Associated
with azotemia, oliguria, hypertension (due to salt retention),
proteinuria (< 3.5 g/day) but in severe cases may be in nephrotic range.
*
Poststreptococcal glomerulonephritis : Occurs ~ 24 weeks after
group A streptococcal infection of pharynx or skin. Resolves
spontaneously. Presents with peripheral and periorbital edema, cola-
colored urine, hypertension.
*
Rapidly progressive glomerulonephritis : Rapidly deteriorating renal
function (days to weeks).
*
good pasture syn. : generalized symptoms like malaise, weight loss,
fatigue, fever, and chills are also common, as are joint aches and pains .
lung symptoms : coughing up blood, chest pain (in less than 50% of
cases overall), cough , and shortness of breath , Kidney symptoms
usually include blood in the urine, protein in the urine , unexplained
swelling of limbs or face, high amounts of urea in the blood, and high
blood pressure .
*
granlomatosis whith polyangiitis ( Wegener granulomatosis ) : In
general, rhinitis is the first sign in most people.
Kidney: rapidly progressive glomerulonephritis (75%), leading
to chronic kidney failure
Upper airway, eye and ear disease:
Nose: pain, stuffiness, nosebleeds, rhinitis, crusting , saddle-

nose deformity due to a perforated septum


Ears: conductive hearing loss due to auditory tube dysfunction,

sensorineural hearing loss (unclear mechanism)


Oral cavity: strawberry gingivitis, underlying bone destruction

with loosening of teeth, non-specific ulcerations throughout oral


mucosa
Eyes: pseudotumours, scleritis, conjunctivitis, uveitis, episcleritis

Trachea: subglottal stenosis


Lungs: pulmonary nodules (referred to as "coin lesions"), infiltrates
(often interpreted as pneumonia), cavitary lesions, pulmonary
haemorrhage causing haemoptysis, and rarely bronchial stenosis.
Arthritis: Pain or swelling (60%), often initially diagnosed
as rheumatoid arthritis
Skin: nodules on the elbow, purpura, various others (see cutaneous
vasculitis)
Nervous system: occasionally sensory neuropathy (10%) and
rarely mononeuritis multiplex
Heart, gastrointestinal tract, brain, other organs: rarely affected.
*
Microscopic Polyangiitis : Generalised symptoms include fever, fatigue,
weakness, loss of appetite, and weight loss. Muscle and joint aches are
common. The skin may show rashes, swelling, ulcers, and lumps.
palpable purpura and livedo reticularis can occur in some patients.
Nerve involvement may cause sensory changes with numbness, pain,
burning, and weakness (peripheral neuropathy). Central nervous
system involvement may cause strokes or seizures. Kidney involvement
can produce varying degrees of kidney failure, such
as hypertension, edema, oliguria,and uremia. Involvement of the
arteries of the heart may cause a heart attack , heart failure, and
inflammation of the sac around the heart (pericarditis).

*
Churg-strauss syndrome
*
IG A nephropathy ( berger ) : Episodic gross hematuria that occurs
concurrently with respiratory or GI tract infections .
*
Alport syndrome : Eye problems (eg, retinopathy, lens dislocation),
glomerulonephritis, sensorineural deafness .
*
Membranoproliferative glomerulonephritis : present as
nephrotic syndrome and nephritic syndrome concurrently.
*
Diffuse proliferative glomerulonephritis : present as
nephrotic syndrome and nephritic syndrome concurrently.
*
Urinary tract infections
Cystitis : suprapubic pain, dysuria, urinary frequency, urgency.
Systemic signs (eg, high fever, chills) are usually absent.
*

Pyelonephritis :
Acute : fevers, flank pain (costovertebral angle tenderness ),
nausea/vomiting, chills.
Chronic : Coarse, asymmetric corticomedullary scarring, blunted calyx.
A perinephric abscess (infection around the kidney) and/or
pyonephrosis may develop in severe cases of pyelonephritis .
Xanthogranulomatous pyelonephritis : widespread kidney damage
due to granulomatous tissue containing foamy macrophages

*
Diffuse cortical necrosis : acute kidney failure. associated with
obstetric catastrophes such as abruptio placentae and septic shock .
*
Renal osteodystrophy : Hypocalcemia, hyperphosphatemia , and
failure of vitamin D hydroxylation associated with chronic renal disease
2 hyperparathyroidism. Causes subperiosteal thinning of bones .
*
Nephrolithiasis : Presents with unilateral flank tenderness , colicky pain
radiating to groin, hematuria.
Calcium oxalate / ca phosphate :
Ammonium , magnesium , phosphate
Uric acid
Cysteine
*
Hydronephrosis : Hydronephrosis that occurs acutely with sudden
onset (as caused by a kidney stone) can cause intense pain in the flank
area (between the hips and ribs). Historically, this type of pain has been
described as "Dietl's crisis". Conversely, hydronephrosis that develops
gradually will generally cause either attacks of a dull discomfort or no
pain. Nausea and vomiting may also occur. An obstruction that occurs
at the urethra or bladder outlet can cause pain and pressure resulting
from distension of the bladder. Blocking the flow of urine will
commonly result in urinary tract infections which can lead to the
development of additional stones, fever, and blood or pus in the urine.
If complete obstruction occurs, kidney failure may follow .
*
Urinary incontinence :
Stress incontinence : leak with intra-abdominal pressure (eg,
sneezing, lifting).
Urgency incontinence : leak with urge to void immediately .
Mixed incontinence : Features of both stress and urgency
incontinence.
Overflow incontinence : leak with overfilling.
*

Renal neoplasia :
Angiomyolipoma : Hamartoma comprised of blood vessels, smooth
muscle, and adipose tissue .
Renal cell carcinoma : hematuria, palpable mass, 2 polycythemia,
flank pain, fever, weight loss. Invades renal vein (may develop
varicocele if left sided) then IVC and
spreads hematogenously; metastasizes to lung and bone.
Wilms tumor ( nephroblastoma ) : large, palpable, unilateral flank
mass and/or hematuria.
Renal oncocytoma : painless hematuria, flank pain,
abdominal mass.
*
Lower urinary tract carcinoma :
Urothelial ( transitional cell carcinoma ) : painless hematuria .
Squamous cell carcinoma : painless hematuria
Adenocarcinoma : painless hematuria
**
Female genital system and gestational pathology
Vulva
Bartholin cyst : Presents as a unilateral, painful cystic lesion at the
lower vestibule adjacent to the vaginal canal .
*
Condyloma : Warty neoplasm of vulvar skin .
*
Lichen sclerosis : Presents as a white patch (leukoplakia) with
parchment-like vulvar skin .
*
Lichen simplex cronicus : Presents as leukoplakia with thick, leathery
vulvar skin .
*
Vulvular carcinoma : Presents as leukoplakia; biopsy may be required
leukoplakia . to distinguish carcinoma from other causes of
Extra mammary paget disease : Presents as erythematous , pruritic,
ulcerated vulvar skin .
*
Vagina
Squamous cell carcinoma : Often, there are no symptoms, and the
cancer is found through a routine gynecologic exam. If there are
symptoms, they are commonly abnormal vaginal bleeding, which may
be post-coital, intermenstrual, prepubertal, or postmenopausal. Other,
less specific signs include difficult or painful urination, pain during
intercourse, and pain in the pelvic area.
Adenosis : discovered as nodules or cysts on the vaginal tube .
Clear cell adenocarcinoma :
Abnormal vaginal bleeding or discharge, although 16-25% are
asymptomatic
Postmenopausal bleeding
Congenital anomalies of GU tract without DES exposure: associated
with metanephric and mesonephric remnants and Mllerian duct
anomalies
Lymphatic and vascular spread can occur
Can metastasize to regional lymph nodes, lungs), kidney),
peritoneum, omentum, ovary, liver and brain Can present with
malignant pericardial effusion and cardiac tamponade
May recur in distant sites even in absence of pelvic disease
Embryonal rhabdomyosarcoma : Presents as bleeding and a grape-like
mass protruding from the vagina or penis of a child (usually< 5 yrs of
age) .
cervix
HPV : In most cases, there are no symptoms of HPV infection other
than the warts themselves. Sometimes warts may cause itching,
redness, or discomfort .
Dyplasia : Typically asymptomatic (detected with Pap smear) or
presents as abnormal vaginal bleeding (often postcoital)
Cervical intraepithelial neoplasia :Typically asymptomatic (detected
with Pap smear) or presents as abnormal vaginal bleeding (often
postcoital) .
Cervical carcinoma : Presents as vaginal bleeding, especially postcoital
bleeding, or cervical discharge . Lateral invasion can block ureters
renal failure.
*
Endometrium and myometrium
Adenomyosis : Presents with dysmenorrhea, menorrhagia , uniformly
enlarged, soft, globular uterus.
*
Endometriosis : Characterized by cyclic pelvic pain, bleeding,
dysmenorrhea, dyspareunia, dyschezia (pain with defecation),
infertility; normal-sized uterus .
*
Asherman syndrome : Secondary amenorrhea due to loss of the basalis
and scarring .
*
An ovulatory cycle : Represents a common cause of dysfunctional
uterine bleeding, especially during menarche and menopause .
*
acute Acute endometritis : fever, abnormal uterine bleeding, and
pelvic pain .
*
chronic Acute endometritis : Presents as abnormal uterine bleeding,
pain, and infertility .
*
Endometrial polyp : May be asymptomatic or
present with painless abnormal uterine bleeding.
*
Endometrial hyperplasia : Presents as postmenopausal vaginal
bleeding .
*
Endometrial carcinoma : Presents with vaginal bleeding.
*
Leiomyoma ( fibroid ) : May be asymptomatic, cause abnormal uterine
bleeding, or result in miscarriage.
Severe bleeding may lead to iron deficiency anemia.
*
Leiomyosarcoma : present as an enlarging, painless mass. Although
these tumors are generally associated with small blood vessels, they
usually do not present with signs or symptoms of vascular compression
. However, when leiomyosarcoma arises from a major blood vessel,
symptoms of vascular compromise or leg edema may be present, as
well as neurologic symptoms such as numbness from compression of
an adjacent nerve.
*
ovary
premature ovarian failure : present with signs of menopause after
puberty but before age 40.
*
ovarian cysts : Some or all of the following symptoms may be present,
though it is possible not to experience any symptoms:
Abdominal pain. Dull aching pain within the abdomen or pelvis,
especially during intercourse.
Uterine bleeding. Pain during or shortly after beginning or end of

menstrual period; irregular periods, or abnormal uterine bleeding or


spotting.
Fullness, heaviness, pressure, swelling, or bloating in the abdomen.

When a cyst ruptures from the ovary, there may be sudden and

sharp pain in the lower abdomen on one side.


Change in frequency or ease of urination (such as inability to fully

empty the bladder), or difficulty with bowel movements due to


pressure on adjacent pelvic anatomy.
Constitutional symptoms such as fatigue, headaches

Nausea or vomiting

Weight gain

Types :
follicular
theca lutein
*
Polycystic ovarian disease : presents with amenorrhea
/oligomenorrhea, hirsutism, acne, fertility. Associated with obesity.
risk of endometrial cancer 2 to unopposed estrogen from
repeated anovulatory cycles.
*
Ovarian tumors :
A / surface epithelial tumors :
clinically present late with vague abdominal symptoms (pain and
fullness) or signs of compression (urinary frequency).
Mucoid & serous tumors :
Benign cystadenoma
Malignant cystadenocarcinoma : serous , mucinous
Borderline
Endometrioid tumors
Brenner tumors
B / germ cell tumors :
Cystic teratoma : Cystic tumor composed of fetal tissue derived from
two or three embryologic layers (e.g., skin, hair, bone, cartilage, gut,
and thyroid
Dysgerminoma
Endodermal sinus tumor
Choriocarcinoma
Embryonal carcinoma
C / sex cord stromal tumors :
Granulose-theca cell tumor : presents with signs of estrogen excess
i. Prior to puberty-precocious puberty
ii. Reproductive age-menorrhagia or metrorrhagia , breast tenderness.
iii. Postmenopause (most common setting for granulosa-theca cell
tumors)-
endometrial hyperplasia with postmenopausal uterine bleeding.
Sertoli-lydig cell tumor : May produce androgen; associated with
hirsutism and virilization
Fibroma : Associated with pleural effusions and ascites (Meigs
syndrome); syndrome
resolves with removal of tumor.
D / thecoma : presents as abnormal uterine bleeding
in a postmenopausal woman.
E / metastasis :
Krukenberg tumor
Pseudomyxoma peritoneii
**
Gestational pathology
Ectopic pregnancy : lower quadrant abdominal pain a few weeks after
a missed period. Often clinically mistaken for appendicitis.
*
Spontaneous abortion : Presents as vaginal bleeding, cramp-like
pain, and passage of fetal tissues .
*
Placenta previa : Associated with painless thirdtrimester
bleeding.
*
Placental abruption : abrupt, painful bleeding (concealed or apparent)
in third trimester; possible DIC, maternal shock, fetal distress.
Life threatening for mother and fetus.
*
Placenta accreta/increta/percreta : difficult delivery of the
placenta and postpartum bleeding .
*
Preeclampsia : New-onset hypertension with either proteinuria or end-
organ dysfunction after 20th week
of gestation (< 20 weeks suggests molar pregnancy).
*
Eclampsia : Preeclampsia + maternal seizures.
Maternal death due to stroke, intracranial hemorrhage, or ARDS.
*
HEELP syndrome : Hemolysis, Elevated Liver enzymes, Low Platelets . A
manifestation of severe Preeclampsia .
*
Gestational hypertension : BP > 140/90 mm Hg after 20th week of
gestation. No pre-existing hypertension. No proteinuria or end-organ
damage.
*
Sudden infant death syndrome :Infants usually expire during
sleep .
*
Hydatidiform mole : presents in the second trimester as passage of
grape-like masses through the vaginal canal , uterine enlargement
more than expected, pelvic pressure /pain. Associated with hCG-
mediated sequelae: early preeclampsia (before 20 weeks), theca-lutein
cysts, hyperemesis gravidarum, hyperthyroidism.
Types :
Partial : with fetal parts .
Complete : without fetal parts .
*
Choriocarcinoma : Presents with abnormal -hCG, shortness of
breath, hemoptysis. Hematogenous spread to lungs cannonball
metastases .
*
Vasa previa : Presents with triad of membrane rupture, painless
vaginal bleeding, fetal bradycardia (< 110 beats/min).
*
Retained placental tissue : Risks of hemorrhage and infection.
*
Polyhydramnios : associated with fetal malformations (eg, esophageal
/duodenal atresia, anencephaly; both result in inability to swallow
amniotic fluid), maternal diabetes, fetal anemia, multiple gestations.
*
Oligohydramnios : associated with placental insufficiency, bilateral
renal agenesis, posterior urethral valves (in males) and resultant
inability to excrete urine. Any profound oligohydramnios can cause
Potter sequence.
*

Embryology
Craniopharyngioma : present with bitemporal inferior
quadrantanopia leading to bitemporal hemianopsia, as the tumor
may compress the optic chiasm.

Balance disorder , Dry skin , Fatigue , Fever , Headache


(obstructive hydrocephalus) , Hypersomnia , Lethargy , Myxedema ,
Nausea , Short stature , Polydipsia , Polyuria (diabetes insipidus) ,
Vision loss (bitemporal hemianopia) , Vomiting , post surgical Weight
gain .
*
Fetal alcohol syndrome :
Leading cause of intellectual disability in the US.
incidence of congenital abnormalities, including pre- and postnatal
developmental retardation, microcephaly, facial abnormalities (eg,
smooth philtrum, thin vermillion border [upper lip], small palpebral
fissures), limb dislocation, heart defects. Heart-lung fistulas and
holoprosencephaly in most severe form.
*
Single umbilical artery : SUA does increase the risk of the baby
having cardiac, skeletal, intestinal or renal problems .
*
Persistenet cervical sinus : Most branchial cleft fistulae are
asymptomatic, but they may become infected. The cyst, however,
usually presents as a smooth, slowly enlarging lateral neck mass
that may increase in size after an upper respiratory tract infection.
*
Treacher Collins syndrome : mandibular hypoplasia, facial
abnormalities .
*
Pierre Robin sequence :
micrognathia, glossoptosis, cleft palate, airway obstruction .
*
Congenital pharyngocutaneous fistula : fistula between tonsillar
area and lateral neck .
*
Digeorge syndrome : Tetany (hypocalcemia), recurrent viral/fungal
infections (T-cell deficiency), conotruncal abnormalities (eg, tetralogy
of Fallot, truncus arteriosus) .
*
MEN 2A : Parathyroid hyperplasia Medullary thyroid carcinoma
neoplasm of parafollicular or C cells; secretes calcitonin;
prophylactic thyroidectomy required Pheochromocytoma (secretes
catecholamines) .
*
Clift lip and palate
*
Patent urachus : Total failure of urachus to obliterate urine
discharge from umbilicus.
*
Urachal cyst : Partial failure of urachus to obliterate; fluid-filled cavity
lined with uroepithelium, between umbilicus and bladder. Can lead to
infection, adenocarcinoma.
*
Vesicourachal diverticulum : Slight failure of urachus to obliterate
outpouching of bladder.
*
Vitelline fistula Vitelline duct fails to close meconium discharge
from umbilicus.
*
Meckel diverticulum Partial closure of vitelline duct, with patent
portion attached to ileum (true diverticulum). May
have heterotopic gastric and/or pancreatic tissue melena ,
hematochezia, abdominal pain.
*
Mullerian agenesis (Mayer-Rokitansky-
Kster-Hauser syndrome)may present as 1 amenorrhea (due to a
lack of uterine development) in females with fully developed 2 sexual
characteristics (functional ovaries).
*
Uterine (Mllerian duct) anomalies :
Septate uterus Common fertility and early miscarriage/pregnancy
loss..
Bicornuate uterus risk of complicated pregnancy, early pregnancy
loss,
malpresentation, prematurity.
Uterus didelphys double uterus, cervix, vagina D. Pregnancy
possible.
*
Klinfelter syndrome : Testicular atrophy, eunuchoid body shape, tall,
long extremities, gynecomastia, female hair distribution . May present
with developmental delay.
*
Turner syndrome : Short stature (if untreated; preventable with
growth hormone therapy), ovarian dysgenesis (streak ovary), shield
chest , bicuspid aortic valve, coarctation (femoral < brachial pulse),
lymphatic defects (result in webbed neck or cystic hygroma;
lymphedema in feet, hands), horseshoe kidney .
*
Double y males : Phenotypically normal (usually undiagnosed), very
tall. Normal fertility. May be associated with severe acne, learning
disability, autism spectrum disorders .
*
True hermaphroditism (Ovotesticular disorder of sex development ) :
Both ovarian and testicular tissue present (ovotestis); ambiguous
genitalia.
*
Vaginal agenesis
*
Female pseudohemaphrodite : Ovaries present, but external
genitalia are virilized or ambiguous.
Male pseudohemaphrodite : Testes present, but external
genitalia are female or ambiguous.
*
Aromatase deficiency : Masculinization of female (46,XX DSD) infants
(ambiguous genitalia) , serum testosterone and androstenedione.
Can present with maternal virilization during pregnancy (fetal
androgens cross the placenta).
*
5 reductase deficiency : Ambiguous genitalia until puberty, when
testosterone causes masculinization/ growth of external genitalia.
*
Kallman syndrome : synthesis of GnRH in the hypothalamus;
anosmia; GnRH, FSH, LH, testosterone.
Infertility (low sperm count in males; amenorrhea in females).
Male genital system pathology
Penis
Urethral injury :
Membranous ( posterior ) : Injury can cause urine to leak into
retropubic space.
Penile ( anterior ) : Can cause urine to leak beneath deep fascia of
Buck. If fascia is torn, urine escapes into superficial perineal space.
*
Urethritis : pain with urination (dysuria). In addition to pain, urethritis
symptoms include:

Feeling the frequent or urgent need to urinate


Difficulty starting urination

Urethritis can also cause itching, pain, or discomfort when a person is


not urinating.
Other symptoms of urethritis include:
Pain during sex
Discharge from the urethral opening or vagina
In men, blood in the semen or urine

*
Hypospadius : Abnormal opening of penile urethra on ventral surface
of penis .
*
Epispadius : Abnormal opening of penile urethra on dorsal
surface of penis .
*
Condyloma acuminatum : Benign warty growth on genital skin .
*
Lymphogranuloma venereum :Necrotizing granulomatous
inflammation of the inguinal lymphatics and lymph nodes .
*
Squamous cell carcinoma : Precursor in situ lesions
l. Bowen disease-in situ carcinoma of the penile shaft or scrotum that
presents as leukoplakia
2. Erythroplasia ofQueyrat- in situ carcinoma on the glans that presents
as erythroplakia
3.Bowenoid papulosis- in situ carcinoma that presents as multiple
reddish papules .
*
Peyronie disease : Abnormal curvature of penis due to fibrous plaque
within tunica albuginea. Associated with
erectile dysfunction. Can cause pain, anxiety.
*
Priapism : Painful sustained erection lasting > 4 hours.
*

Testicle
Cryptorchidism : Undescended testis (one or both); impaired
spermatogenesis , reduced fertility .
*
Orchitis : Symptoms of orchitis are similar to those of testicular torsion.
These can include:
hematospermia (blood in the semen)
hematuria (blood in the urine)
severe pain
visible swelling of a testicle or testicles and often the inguinal lymph
nodes on the affected side.
*
Epididymitis : The acute form usually develops over the course of
several days, with pain and swelling frequently in only one testis,
which will hang low in the scrotum. There will often be a recent
history of dysuria or urethral discharge. Fever is also a common
symptom. In the chronic version, the patient may have painful
point tenderness but may or may not have an irregular epididymis
upon palpation .
*
Testicular torsion : presents in males 1218 years old. Characterized by
acute, severe pain, high-riding testis, and absent cremasteric reflex.
*
Varicocele : Visible or palpable (able to be felt) enlarged vein
Dragging-like or aching pain within scrotum
Feeling of heaviness in the testicle(s)
Atrophy (shrinking) of the testicle(s)
Alteration of testosterone levels
Benign prostatic hyperplasia (BPH) and related urinary problems .
*

Hydrocele : Presents as scrotal swelling that can be


transilluminated .
*
Hematocele : bloody hydrocele .
*
Spermatocele : Cyst due to dilated epididymal duct or rete
testis. Paratesticular fluctuant nodule.
*
Testicular tumors
Testicular mass that does not transilluminate.
1 / germ cell tumors :
A / Seminoma : In most cases, they produce masses that are
readily felt on testicular self-examination; however, in up to 11
percent of cases, there may be no mass able to be felt, or there
may be testicular atrophy. Testicular pain is reported in up to one
fifth of cases. Low back pain may occur after metastasis to
the retroperitoneum .
forms a homogeneous mass with no hemorrhage or necrosis .
B / Non-seminoma :
embryonal carcinoma : comprised of immature, primitive cells
that may produce glands ; forms a hemorrhagic mass with
necrosis .
yolk sac : a malignant tumor that resembles yolk sac
elements.
choriocarcinoma : May produce gynecomastia, symptoms of
hyperthyroidism (hCG is structurally similar to LH, FSH, TSH).
Teratoma : composed of mature fetal tissue derived from two or three
embryonic layers.
C / mixed germ cell tumor :
2 / sex cord stromal :
Leydig cell tumor : produces androgen, causing precocious puberty in
children or gynecomastia in adults.
Sertoli cell tumor : comprised of tubules and is usually clinically
silent
3 / lymphoma
**
Prostate
Acute prostatitis : Characterized by dysuria,frequency , urgency,
low back pain. Warm, tender, enlarged prostate.
*
Chronic prostatitis : Presents as dysuria with pelvic or low back
pain .
*
Benign prostatic hyperplasia : presents with frequency of urination,
nocturia, difficulty starting and stopping urine stream, dysuria. May
lead to distention and hypertrophy of bladder, hydronephrosis, UTIs.
*
Prostatic adenocarcinoma : Early prostate cancer usually has no
clear symptoms. Sometimes, however, prostate cancer does cause
symptoms, often similar to those of diseases such as benign
prostatic hyperplasia. These include frequent urination
, nocturia (increased urination at night), difficulty starting and
maintaining a steady stream of urine, hematuria (blood in the
urine), and dysuria (painful urination) . prostate cancer may also
cause problems with sexual function and performance, such as
difficulty achieving erection or painful ejaculation .
Metastatic prostate cancer that has spread to other parts of the
body can cause additional symptoms. The most common
symptom is bone pain, often in the vertebrae (bones of the
spine), pelvis, or ribs. Spread of cancer into other bones such as
the femur is usually to the proximal or nearby part of the bone.
Prostate cancer in the spine can also compress the spinal cord,
causing tingling, leg weakness and urinary and fecal incontinence.
**
Endocrine pathology
Anterior pituitary gland
Pituitary adenoma :
1 / Non-functional : present with mass effect.
i. Bitemporal hemianopsia occurs due to compression of the optic
chiasm.
ii. Hypopituitarism occurs due to compression of normal pituitary
tissue.
iii. Headache .
2 / Functional :
A / prolactinoma : presents as galactorrhea and amenorrhea (females)
or as decreased libido and headache (males) .
*
B / growth hormone cell adenoma :
1. Gigantism in children : increased linear bone growth (epiphyses are
not fused) .
2. Acromegaly in adults : Large tongue with deep furrows, deep voice,
large hands and feet, coarsening of facial
features with aging , frontal bossing, diaphoresis (excessive sweating),
impaired glucose tolerance (insulin resistance). Growth of visceral
organs leading to dysfunction (e.g., cardiac failure) , Secondary
diabetes mellitus is often present .
*
C / ACTH cell adenoma : Cushing syndrome .
D / TSH cell , LH producing , FSH producing adenoma , rare .
*
Hypopituitarism :
Causes :
Pituitary adenoma
craniophryngioma
shehan syndrome : Presents as poor lactation, loss of pubic hair,
and fatigue .
empty sella syndrome
pituitary apoplexy : Usually presents with sudden onset severe
headache, visual impairment (eg, bitemporal hemianopia, diplopia due
to CN III palsy), and features of hypopituitarism.
anterior pituitary :
Deficiency of all anterior pituitary hormones is more common than
individual hormone deficiency.
Deficiency of luteinizing hormone (LH) and follicle-stimulating
hormone (FSH), together referred to as the gonadotropins, leads to
different symptoms in men and women. Women experience oligo or
amenorrhea (infrequent/light or absent menstrual periods
respectively ) and infertility. Men lose facial, scrotal and trunk hair, as
well as suffering decreased muscle mass and anemia. Both sexes may
experience a decrease in libido and loss of sexual function, and have an
increased risk of osteoporosis (bone fragility). Lack of LH/FSH in
children is associated with delayed puberty.
Growth hormone (GH) deficiency : a decrease in muscle mass, central
obesity (increase in body fat around the waist) and impaired attention
and memory. Children experience growth retardation and short
stature.
Adrenocorticotropic hormone (ACTH) deficiency : adrenal
insufficiency, a lack of production of glucocorticoids such as cortisol by
the adrenal gland. If the problem is chronic, symptoms consist
of fatigue , weight loss, failure to thrive (in children), delayed
puberty (in adolescents), hypoglycemia (low blood sugar
levels), anemia and hyponatremia (low sodium levels). If the onset is
abrupt, collapse, shock and vomiting may occur.
ACTH deficiency is highly similar to primary Addison's disease, which is
cortisol deficiency as the result of direct damage to the adrenal glands;
the latter form, however, often leads to hyperpigmentation of the skin,
which does not occur in ACTH deficiency.
Thyroid-stimulating hormone (TSH) deficiency : hypothyroidism (lack
of production of thyroxine (T4) and triiodothyronine (T3) in
the thyroid). Typical symptoms are tiredness, intolerance to cold
, constipation, weight gain, hair loss and slowed thinking, as well as a
slowed heart rate and low blood pressure. In children, hypothyroidism
leads to delayed growth and in extreme inborn forms to a syndrome
called cretinism.
Prolactin (PRL) plays a role in breastfeeding, and inability to breastfeed
may point at abnormally low prolactin levels.
Posterior pituitary
Antidiuretic hormone (ADH) deficiency : the syndrome of diabetes
insipidus (unrelated to diabetes mellitus): inability to concentrate
the urine, leading to polyuria (production of large amounts of clear
urine) that is low in solutes, dehydration andin compensation
extreme thirst and constant need to drink (polydipsia), as well
as hypernatremia (high sodium levels in the blood). ADH deficiency
may be masked if there is ACTH deficiency, with symptoms only
appearing when cortisol has been replaced.
Oxytocin (OXT) deficiency : a few symptoms, as it is only required at
the time of childbirth and breastfeeding.
*
Dwarfism ( laron syndrome ) : short height, small head
circumference, characteristic facies with saddle nose and prominent
forehead, delayed skeletal maturation, small genitalia.
**
Posterior pituitary gland
Central diapetes insipidus : 1. Polyuria and polydipsia with risk of life-
threatening dehydration
2. Hypernatremia and high serum osmolality .
3. Low urine osmolality and specific gravity .
*
Peripheral diapetes insipidus : Clinical features are similar to central
diabetes insipidus, but there is no response to
desmopressin.
*
Syndrome of inappropriate ADH secretion : Clinical features are based
on retention offree water.
1. Hyponatremia and low serum osmolality
2. Mental status changes and seizures-Hyponatremia leads to neuronal
swelling
and cerebral edema.
**

Thyroid gland
thyroglossal duct cyst : Presents as an anterior neck mass .
*
Lingual thyroid : Presents as a base of tongue mass .
*
Pyramidal lobe of thyroid .
*
Hyperthyroidism :
Heat intolerance ( heat production) , Weight loss, appetite ,
Hyperactivity, anxiety, insomnia, hand tremor , Diarrhea
/hyperdefecation , reflexes (brisk) , Thyrotoxic myopathy (proximal
muscle weakness, normal CK) , Pretibial myxedema (Graves disease),
periorbital edema , Warm, moist skin; fine hair , Chest pain,
palpitations, and arrhythmias (eg, atrial fibrillation) due to number
and sensitivity of -adrenergic receptors
*
Graves : (hyperthyroidism, diffuse goiter) and
dermal fibroblasts (pretibial myxedema). osmotic muscle swelling,
muscle inflammation, and adipocyte count exophthalmos .
*
Multinodular goiter
*
Thyrois storm : agitation, delirium, fever, diarrhea, coma, and
tachyarrhythmia (cause of death). May see LFTs .
*
Jod-basedow phenomenon : Thyrotoxicosis if a patient with iodine
deficiency and partially autonomous thyroid tissue (eg, autonomous
nodule) is made iodine replete. Opposite of Wolff-Chaikoff effect.
**
Hypothyroidism : Cold intolerance ( heat production) , Weight gain,
appetite , Hypoactivity, lethargy, fatigue, weakness, depressed
mood , Constipation , reflexes (delayed/slow relaxing) ,
Hypothyroid myopathy (proximal muscle weakness, CK) ,
Myxedema (facial/periorbital) , Dry, cool skin; coarse, brittle hair ,
Bradycardia, dyspnea on exertion .
*
Hashimoto : Associated with risk of non-Hodgkin lymphoma
(typically of B-cell origin). moderately enlarged, nontender thyroid .
*
Cretinism : congenital hypothyroidism : Pot-bellied, Pale, Puffy-faced
child with Protruding umbilicus, Protuberant tongue, and Poor brain
development: the 6 Ps .
*
Subacute granulomatous thyroiditis ( de quervain ) : Self-limited
disease often often following a flu-like illness (eg, viral infection).
May be hyperthyroid early in course, followed by hypothyroidism.
ESR, jaw pain, very tender thyroid .
*
Riedel fibrosing thyroiditis : a replacement of the normal thyroid
parenchyma by a dense fibrosis that invades adjacent structures
of the neck and extends beyond the thyroid capsule. This makes
the thyroid gland stone-hard (woody) and fixed to adjacent
structures. The inflammatory process infiltrates muscles and
causes symptoms of tracheal compression .
*
Wolf-chaikoff effects : (thyroid gland downregulation in response to
iodide
**
Thyroid neoplasia
Follicular adenoma : Most are nonfunctional (cold), can rarely cause
hyperthyroidism via autonomous thyroid hormone production (hot
or toxic).
*
Papillary carcinoma : asymptomatic thyroid nodule that appears
as a neck mass. In some instances, the mass may have produced
local symptoms . Other clinical signs that could indicate papillary
thyroid are fixation to the trachea, a firm neck mass, damage to
recurrent laryngeal or cervical sympathetic nerves.
*
Follicular carcinoma
*
Medullary carcinoma : Calcitonin lowers serum calcium by increasing
renal calcium excretion but is inactive at normal physiologic level .
*
Anaplastic carcinoma : Often invades local structures, leading to
dysphagia or respiratory compromise .
*
Lymphoma : Associated with Hashimoto thyroiditis.
**
Carcinoid syndrome : recurrent diarrhea, cutaneous flushing,
asthmatic wheezing, right-sided valvular heart disease (tricuspid
regurgitation, pulmonic stenosis).
*
Parathyroid gland
Primary parathyroidism : Hypercalcemia, hypercalciuria
(renal stones), polyuria (thrones), hypophosphatemia,. Most often
asymptomatic.May present with weakness and constipation (groans)
, abdominal/flank pain (kidney stones, acute pancreatitis), depression
(psychiatric overtones).
*
Secondary parathyroidism : Hypocalcemia, hyperphosphatemia in
chronic renal failure .
*
Tertiary parathyroidism : Refractory (autonomous)
hyperparathyroidism resulting from chronic renal disease .
*
Hypoparathyroidism :
Numbness and tingling (particularly circumoral)
Chvostek signtapping of facial nerve (tap the Cheek) contraction
of facial muscles.
Trousseau signocclusion of brachial artery with BP cuff (cuff the
Triceps) carpal spasm.
*
Pseudohypoparathyroidism type 1A : short fourth and fifth
metacarpals and a rounded facies , short stature .
*
Pseudopseudohypoparathyroidism : physical exam features of Albright
hereditary osteodystrophy but without end-organ PTH resistance (PTH
level normal).
*
Familial hypocalciuric hypercalcemia : Most cases of familial
hypocalciuric hypercalcemia are asymptomatic.
Mild hypercalcemia and hypocalciuria with normal to PTH levels.
*
Osteitis fibrosa cystic : (brown tumor consisting of osteoclasts and
deposited hemosiderin from hemorrhages; causes bone pain).
*
Renal osteodystrophy : renal disease 2 and 3
hyperparathyroidism bone lesions.
*
Endocrine pancrease
Diabetes mellitus : Polydipsia, polyuria, polyphagia, weight loss,
DKA (type 1), hyperosmolar coma (type 2).
Nonenzymatic glycation:
Small vessel disease (diffuse thickening of basement membrane)
retinopathy (hemorrhage, exudates, microaneurysms, vessel
proliferation), glaucoma, neuropathy, nephropathy (nodular
glomerulosclerosis, aka Kimmelstiel-Wilson nodules progressive
proteinuria [initially microalbuminuria; ACE inhibitors are
renoprotective] and arteriolosclerosis hypertension;
both lead to chronic renal failure).
Large vessel atherosclerosis, CAD, peripheral vascular occlusive
disease, gangrene limb loss, cerebrovascular disease. MI most
common cause of death.
Osmotic damage (sorbitol accumulation in organs with aldose
reductase and or absent sorbitol dehydrogenase):
Neuropathy (motor, sensory [glove and stocking distribution], and
autonomic degeneration)
Cataracts
Type 1 diabetes mellitus : < 30 yr , not associated with obesity .
classic symptoms is common .
*
Type 2 diabetes mellitus : > 40 yr , associated with obesity . classic
symptoms : sometimes .
*
Diabetic ketoacidosis : DKA is Deadly: Delirium/psychosis, Kussmaul
respirations (rapid/deep breathing), Abdominal pain/nausea/vomiting,
Dehydration . Fruity breath odor (due to exhaled acetone).
Complications : Life-threatening mucormycosis (usually caused by
Rhizopus infection), cerebral edema, cardiac arrhythmias, heart failure.
*
Hyperosmolar hyperglycemic state : thirst, polyuria, lethargy, focal
neurological deficits (eg, seizures), can progress to coma and death if
left untreated.
*
Pancreatic endocrine neoplasia ( Islet cell tumor ):
Insulinoma : hypoglycemia. May see Whipple triad:
low blood glucose, symptoms of hypoglycemia (eg, lethargy, syncope,
diplopia), and resolution of symptoms after normalization of glucose
levels .
*
Gastrinoma ( zollinger-ellison ) : abdominal pain (peptic ulcer disease,
distal ulcers), diarrhea (malabsorption).
*
Somatostatinoma : diabetes/glucose intolerance, steatorrhea,
gallstones, achlorhydria.
*
Vipoma : watery diarrhea, hypokalemia, and achlorhydria.
*
Glucagonoma : dermatitis (necrolytic migratory erythema), diabetes
(hyperglycemia), DVT, declining weight, depression.
*
MEN 1 : Pituitary tumors (prolactin or GH) , Pancreatic endocrine
tumorsZollinger- Ellison syndrome, insulinomas , VIPomas,
glucagonomas (rare) Parathyroid adenomas .
*
MEN 2A : Parathyroid hyperplasia , Medullary thyroid carcinoma
neoplasm of parafollicular or C cells; secretes calcitonin;
prophylactic thyroidectomy required Pheochromocytoma (secretes
catecholamines) .
*
MEN 2B : Medullary thyroid carcinoma Pheochromocytoma Mucosal
neuromas (oral/intestinal ganglioneuromatosis)
*
Adrenal cortex
Hypercortisolism ( cushing syn. ) : Hypertension, weight gain, moon
facies , abdominal striae and truncal obesity, buffalo hump, skin
changes (eg, thinning, striae), osteoporosis, hyperglycemia (insulin
resistance), amenorrhea, immunosuppression.
*
Nelson syndrome : hyperpigmentation, headaches and
bitemporal hemianopia .
*
Hyperaldosteronism ( conn syn. ) : Presents as hypertension with
hypernatremia, hypokalemia, and metabolic alkalosis .

Primary : high aldosterone and low renin


Secondary : high aldosterone and high rennin
*
Congenital adrenal hyperplasia : aAll congenital adrenal enzyme
deficiencies are characterized by an enlargement of both adrenal
glands due to ACTH stimulation (in response to cortisol) and by
skin hyperpigmentation.
A / 17 -hydroxylase deficiency : hypertension
XY: ambiguous genitalia, undescended testes
XX: lacks 2 sexual development
B / 21-hydroxylase deficiency : hypotension
Presents in infancy (salt wasting) or childhood (precocious puberty)
XX: virilization
C / 11 -hydroxylase deficiency : hypertension
XX: virilization
*
Adrenal insufficiency :
A / Primary : Deficiency of aldosterone and cortisol production due to
loss of gland function hypotension (hyponatremic volume
contraction), hyperkalemia, metabolic acidosis, skin and mucosal
hyperpigmentation
Acute present with shock in acute adrenal crisis.
water-hose-fridrichsen : acute 1 adrenal insufficiency due to adrenal
hemorrhage associated withsepticemia (usually Neisseria meningitidis),
DIC, endotoxic shock.
Chronic ( Addison ) .
*
B / secondary : No skin/mucosal hyperpigmentation, no hyperkalemia
(aldosterone synthesis preserved due to intact renin-angiotensin-
aldosterone axis).
*
Tertiary : Seen in patients with chronic exogenous steroid use ,
precipitated by abrupt withdrawal.
*
Adrenal medulla
Pheochromocytoma : episodic hypertension
Symptoms occur in spellsrelapse and remit , Pressure ( BP) Pain
(headache) , Perspiration , Palpitations (tachycardia) , Pallor .
*
Neuroblastoma : abdominal distension and a firm, irregular mass that
can cross the midline (vs Wilms tumor, which is smooth and unilateral).
Less likely to develop hypertension than with pheochromocytoma. Can
also present with opsoclonus-myoclonus syndrome (dancing eyes-
dancing feet).
**
Breast pathology
Common conditions :
Acute mastitis : Presents as an erythematous breast with purulent
nipple discharge; may progress to abscess formation .
*
Periductal mastitis : presents as a subareolar mass with nipple
retraction .
*
Mammary duct ectasia : Presents as a periareolar mass with green-
brown nipple discharge (inflammatory debris) .
*
Fat necrosis : benign, usually painless, lump due to injury to breast
tissue .
*
Gynecomastia : Breast enlargement in males due to estrogen
compared with androgen activity .
*

Benign tumors and fibrocystic change


Proliferative breast disease : Present with premenstrual breast pain or
lumps; often bilateral and multifocal
types :
Fibrocystic changes
Sclerosis adenosis
Epithelial hyperplasia
*
Intraductal papilloma : typically beneath areola.
Most common cause of nipple discharge (serous or bloody). Slight
(1.52 ) .
*
Fibroadenoma : Small, well-defined, mobile mass .
size and tenderness with estrogen (eg, pregnancy, prior to
menstruation).
*
Phylloides tumor : present with a firm, palpable mass. These
tumors are very fast-growing, and can increase in size in just a few
weeks .
*
Malignant breast tumors
Non - invasive :
Ductal carcinoma in situ : Often detected as calcification on
mammography; DCIS does not usually produce a mass.
*
Comedocarcinoma : The duct will have characteristic necrotic
tissue with calcification that feels cord-like. Squeezing the duct
will yield inspissated material that is cheese-like and similar in
consistency to toothpaste .
*
Lobular carcinoma in situ : LCIS does not produce a mass or
calcifications and is usually discovered incidentally on biopsy
*
Paget disease : Eczematous patches on nipple .
*
invasive
Invasive ductal carcinoma : Firm, fibrous, rock-hard mass with sharp
margins and small, glandular, duct-like cells D. Tumor can deform
suspensory ligaments dimpling of skin.
*
Invasive lobular carcinoma
*
Heridetary breast cancer : Clinical features that suggest hereditary
breast cancer include multiple first-degree
relatives with breast cancer, tumor at an early age (premenopausal),
and multiple tumors in a single patient.
*
Male breast cancer :
presents as a subareolar mass in older males
l. Highest density of breast tissue in males is underneath the nipple.
2. May produce nipple discharge .
Types :
Invasive ductal carcinoma : most common
Lobular carcinoma : rare .
**
Central nervous system
Developmental anomalies :
Neural tube defects :
A spina bifida occulta : Associated with tuft of hair or skin
dimple at level of bony defect.
B meningocele : cystic protrusion of the underlying tissue through
the vertebral defect , Meninges (but no neural tissue) herniate through
bony defect
C menigomyelocele : cystic protrusion of the underlying tissue
through the vertebral defect , Meninges and neural tissue (eg, cauda
equina) herniate through bony defect.
D Anencephaly : no forebrain, open calvarium. Clinical findings:
polyhydramnios (no swallowing center in brain). a 'frog-like'
appearance of the fetus .
**
Holoprosencephaly : range from mild (no facial/organ
defects, anosmia, or only a single central incisor) to moderate (
has cleft lip/palate ) to severe (cyclopia) .
*
Cerebral aqueduct stenosis : enlarging head circumference due to
dilation of the ventricles (cranial suture lines are not fused) .
*
Dandy walker malformation : slower motor development and
progressive enlargement of the skull. In older children, symptoms
of increased intracranial pressure such as irritability, vomiting,
and convulsions and signs of cerebellar dysfunction such as
unsteadiness and lack of muscle coordination or jerky movements
of the eyes may occur. Other symptoms include increased head
circumference, bulging at the back of the skull, problems with the
nerves that control the eyes, face and neck, and abnormal
breathing patterns. malformations of
the heart, face, limbs, fingers and toes
*
Arnold chiary malformation :
Chiary 1 : usually asymptomatic in childhood, manifests in adulthood
with headaches and cerebellar symptoms. Associated with spinal
cavitations (eg, syringomyelia).
Chiary 2 : hydrocephalus. Usually associated with lumbosacral
meningomyelocele (may present as paralysis/sensory loss at and below
the level of the lesion).
*
Aphasia types :

*
Common brain lesions :
Amygdala : Klver-Bucy syndromedisinhibited behavior
(eg, hyperphagia, hypersexuality, hyperorality).
*
Frontal lobe : Disinhibition and deficits in concentration, orientation,
judgment; may have reemergence of primitive reflexes.
*
Non-dominant parietal-temporal cortex : Agnosia of the
contralateral side of the world.
*
Medial longitudinal fasciculus :
Internuclear ophthalmoplegia (impaired adduction of ipsilateral eye;
nystagmus of contralateral eye with abduction).
*
Dominant parietal-temporal cortex :Agraphia, acalculia, finger agnosia
, left-right disorientation.
*
Reticular activating system ( midbrain ) : Reduced levels of arousal and
wakefulness (eg, coma).
*
Mamillary bodies ( bilateral ) : Wernicke-Korsakoff syndrome
Confusion , Ataxia, Nystagmus, Ophthalmoplegia, memory loss
(anterograde and retrograde amnesia), confabulation, personality
changes.
*
Basal ganglia : May result in tremor at rest, chorea, athetosis.
*
Cerebellar hemisphere : Intention tremor, limb ataxia, loss of balance;
damage to cerebellum ipsilateral deficits; fall toward side of lesion.
*
Cerebellar vermis : Truncal ataxia, dysarthria.
*
Subthalamic nucleus : Contralateral hemiballismus.
*
Hippocampus ( bilateral ) : Anterograde amnesiainability to make
new memories.
*
Paramedian pontine reticular formation : Eyes look away from
side of lesion.
*
Frontal eye fields : Eyes look toward lesion.
*
Superior colliculus : Parinaud syndromeparalysis of conjugate .
vertical gaze (rostral interstitial nucleus also involved).
**
Spinal cord lesions :
Syringomyelia : Results in a cape-like, bilateral loss of pain and
temperature sensation in upper extremities (fine touch sensation is
preserved).
Associated with Chiari malformations , trauma , and tumors.
*
Tabes dorsalis : progressive sensory ataxia (impaired proprioception
poor coordination).
Associated with Charcot joints, shooting pain, Argyll Robertson pupils.
*
Vit B12 def : Ataxic gait, paresthesia, impaired position /vibration
sense.
*
Poliomyelitis : Signs of LMN lesion: asymmetric weakness, hypotonia,
flaccid paralysis, fasciculations, hyporeflexia, muscle atrophy.
Respiratory muscle involvement leads to respiratory failure. Signs of
infection: malaise, headache, fever, nausea, etc .
*
Werding-hoffman disease : Floppy baby with marked hypotonia and
tongue fasciculations. Infantile type has median age of death of 7
months , symmetric weakness.
*
Complete occlusion of anterior spinal artery : UMN deficit below the
lesion (corticospinal tract ), LMN deficit at the level of the lesion
(anterior horn), and loss of pain and temperature sensation below the
lesion (spinothalamic tract).
*
Multiple sclerosis : present with optic neuritis (sudden loss of vision
resulting in Marcus Gunn pupils), INO, hemiparesis, hemisensory
symptoms, bladder/bowel dysfunction. Symptoms may exacerbate
with increased body temperature (eg, hot bath, exercise). Relapsing
and remitting is most common clinical course , Neck flexion may
precipitate sensation of electric shock running down spine (Lhermitte
phenomenon).
Charcot triad of MS is a SIN:
Scanning speech
Intention tremor (also Incontinence and Internuclear
ophthalmoplegia)
Nystagmus
*
Amyotrophic lateral sclerosis : Combined UMN and LMN deficits with
no sensory or bowel/bladder deficits (due to loss of cortical and spinal
cord motor neurons, respectively). Commonly presents with
asymmetric limb weakness (hands/feet), fasciculations, eventual
atrophy. Fatal .
*
Friedrich ataxia : muscle weakness and loss of DTRs, vibratory sense,
proprioception.
Staggering gait, frequent falling, nystagmus, dysarthria, pes cavus,
hammer toes, diabetes mellitus, hypertrophic cardiomyopathy (cause
of death). Presents in childhood with kyphoscoliosis .
*
Brown sequard syndrome : Hemisection of spinal cord. Findings:
Ipsilateral loss of all sensation at level of lesion
Ipsilateral LMN signs (eg, flaccid paralysis) at level of lesion
Ipsilateral UMN signs below level of lesion (due to corticospinal tract
damage)
Ipsilateral loss of proprioception, vibration, light (2-point discrimination
) touch, and tactile sense below level of lesion (due to dorsal column
damage).
Contralateral pain, temperature, and crude (non-discriminative) touch
below level of lesion (due to spinothalamic tract damage)
If lesion occurs above T1, patient may present with ipsilateral Horner
syndrome due to damage of oculosympathetic pathway.
*
Cauda equina syndrome : Unilateral symptoms including radicular
pain, absent knee and ankle reflex, loss of bladder and anal sphincter
control. Can cause saddle anesthesia.
*
Meningitis : Presents with classic triad of headache, nuchal rigidity, and
fever; photophobia, vomiting, and altered mental status may also be
present. Complications are usually seen with bacterial meningit is :
1. Death-herniation secondary to cerebral edema
2. Hydrocephalus, hearing loss, and seizures-sequelae related to
fibrosis
*
Cerebrovascular disease
Gloabal cerebral ischemia :
Clinical features are based on duration and magnitude of the insult.
l. Mild global ischemia results in transient confusion with prompt
recovery.
2. Severe global ischemia results in diffuse necrosis; survival leads to a
'vegetative state.'
3. Moderate global ischemia leads to infarcts in watershed areas (e.g.,
area lying between regions fed by the anterior and middle cerebral
artery) and damage to highly vulnerable regions such as
i. Pyramidal neurons of the cerebral cortex (layers 3, 5, and 6) - leads to
laminar necrosis
ii. Pyramidal neurons of the hippocampus (temporallobe)-important in
longterm memory
iii. Purkinje layer of the cerebellum-integrates sensory perception with
motor control .
*
Strokes :
MCA : Contralateral paralysis and sensory lossface and upper limb.
Aphasia if in dominant (usually left) hemisphere. Hemineglect
if lesion affects nondominant (usually right) side.
*
ACA : Contralateral paralysis and sensory losslower limb.
*
Lenticulostriate artery : Contralateral paralysis and/or sensory loss
face and body. Absence of cortical signs (eg, neglect, aphasia, visual
field loss).
*
ASA : Contralateral paralysisupper and lower limbs. contralateral
proprioception.
Ipsilateral hypoglossal dysfunction (tongue deviates ipsilaterally).
*
PICA : Dysphagia, hoarseness, gag reflex
Vomiting, vertigo, nystagmus , pain and temperature sensation
from contralateral body, ipsilateral face
Ipsilateral Horner syndrome , Ataxia, dysmetria .
*
AICA : Paralysis of face, lacrimation, salivation, taste from
anterior 23 of tongue , Vomiting, vertigo, nystagmus pain and
temperature sensation from contralateral body, ipsilateral face
Ipsilateral Horner syndrome , Ataxia, dysmetria .
*
Basilar artery : RAS spared, therefore preserved Consciousness ,
Quadriplegia; loss of voluntary , facial, mouth, and tongue movements ,
Loss of horizontal, but not vertical, eye movements .
*
A com : visual field defects .
B com : CNIII palsy eye is " down and out " with ptosis
and mydriasis .
*
Posterior cerebral artery : Contralateral hemianopia with
macular sparing.
*
Central post-stroke pain syndrome : Neuropathic pain due to thalamic
lesions. Initial paresthesias followed in weeks to months by allodynia
(ordinarily painless stimuli cause pain) and dysesthesia.
*
Ischemic stroke :
Thrombotic
Emboli
Lacunar
*
Intracerebral hemorrhage( intraparynchymal hemorrhage )
: Presents as severe headache, nausea , vomiting , and
eventual coma .
*
Subarachnoid hemorrhage : Patients complain of worst headache of
my life. with nuchal rigidity , Bloody or yellow (xanthochromic) spinal
tap.
*
Transient ischemic attack : Brief, reversible episode of focal neurologic
dysfunction without acute infarction ( MRI), with the majority
resolving in < 15 minutes .
*
Trauma
Epidural hematoma : Lucid interval. Rapid expansion under systemic
arterial pressure transtentorial herniation, CN III palsy.
*
Subdural hematoma : Presents with progressive
neurologic signs , Herniation is a lethal complication.
*
Herniation :
Cerebellar Tonsillar : Coma and death result when these herniations
compress the brain stem.
*
Subfalcine ( cingulate ) : Can compress anterior cerebral
artery.
*
Uncal : 1. Compression of cranial nerve III (oculomotor) leads to the
eye moving "down and out" and a dilated pupil.
2. Compression of posterior cerebral artery leads to infarction of
occipital lobe (contralateral homonymous hemianopsia).
3. Rupture of the paramedian artery leads to Duret
(brainstem) hemorrhage.
*
Downward trastentorial ( central ) : Caudal displacement of brain stem
rupture of paramedian basilar artery branches Duret
hemorrhages . Usually fatal
*
Hydrocephalus :
Communicating : CSF absorption by arachnoid granulations (eg,
arachnoid scarring post-meningitis) ICP, papilledema, herniation.
*
Normal pressure hydrocephalus : triad of urinary
incontinence , ataxia, and cognitive dysfunction
(sometimes reversible).
*
Noncommunicating : stenosis of aqueduct of Sylvius; colloid cyst
blocking foramen of Monro; tumor .
*
Hydrocephalus mimics : ex vacu ventriculomegaly : Appearance of
CSF on imaging C , but is actually due to decreased brain tissue and
neuronal atrophy (eg, Alzheimer disease, advanced HIV, Pick disease,
Huntington disease). ICP is normal; triad is not seen.
*
Demyelinating disorders
Leukodystrophies :
A Metachromatic : central and peripheral demyelination with ataxia,
dementia.
*
B Krabbe : peripheral neuropathy, developmental delay, optic
atrophy .
*
C Adrenoleukodystrophy : emotional instability , hyperactivity and
disruptive behavior at school , muscle stiffness, paraparesis and sexual
dysfunction. Progressive disease that can lead to long-term coma
/death and adrenal gland crisis.
*
Charcot-marie-tooth : associated with foot deformities (eg, pes cavus,
hammer toe), lower extremity weakness (eg, foot drop) and sensory
deficits.
*
Multiple sclerosis : present with optic neuritis (sudden loss of vision
resulting in Marcus Gunn pupils), INO, hemiparesis, hemisensory
symptoms, bladder/bowel dysfunction. Symptoms may exacerbate
with increased body temperature (eg, hot bath, exercise). Relapsing
and remitting is most common clinical course , Neck flexion may
precipitate sensation of electric shock running down spine (Lhermitte
phenomenon).
Charcot triad of MS is a SIN:
Scanning speech
Intention tremor (also Incontinence and Internuclear
ophthalmoplegia)
Nystagmus
*
Acute inflammatory demyelinating- polyradiculopathy : Most
common subtype of Guillain-Barr syndrome. symmetric ascending
muscle weakness/paralysis and depressed tendon reflexes beginning in
lower extremities. Facial paralysis in 50% of cases. May see autonomic
dysregulation (eg, cardiac irregularities, hypertension, hypotension) or
sensory abnormalities. Almost all patients survive; the majority recover
completely after weeks to months.
*
Subacute sclerosing panencephalitis : Progressive, debilitating
encephalitis leading to death due to slowly progressing, persistent
infection of the brain by measles virus. Infection occurs in infancy;
neurologic signs arise years later (during childhood ) .
*
Progressive multifocal leukoencephalopathy : Presents with rapidly
progressive neurologic signs (visual loss, weakness, dementia) leading
to death .
*
Central pontine myelinolysis : Acute paralysis, dysarthria, dysphagia,
diplopia, loss of consciousness. Can cause locked-in syndrome.
*
Dementia and degenerative disorders
Alzheimer disease :
1. Slow-onset memory loss (begins with short-term memory loss and
progresses to
long-term memory loss) and progressive disorientation
2. Loss of learned motor skills and language
3. Changes in behavior and personality
4. Patients become mute and bedridden; infection is a common cause
of death.
5. Focal neurologic deficits are not seen in early disease.
*
Frontotemporal dementia : Early changes in personality and behavior
(behavioral variant), or aphasia (primary progressive aphasia).
May have associated movement disorders (eg, parkinsonism, ALS-like
UMN/LMN degeneration) .
*
Lewy body dem. : Dementia and visual hallucinations
(haLewycinations) parkinsonian features .
*
Vascular dem. : Multi focal infarction and injury due to hypertension,
atherosclerosis, or vasculitis , Step-wise decline in cognitive ability with
lateonset memory impairment .
*
Creutzfeldt jakob disease : Rapidly progressive (weeks to months)
dementia with myoclonus (startle myoclonus).
*
Pick disease : Behavioral and language symptoms arise
early ; eventually progresses to dementia .
*
Parkinson : Parkinson TRAPS your body:
Tremor (pill-rolling tremor at rest)
Rigidity (cogwheel)
Akinesia (or bradykinesia)
Postural instability
Shuffling gait
MPTP, a contaminant .
*
Huntington disease : Symptoms manifest between ages 20 and 50:
chorea, athetosis, aggression, depression, dementia (sometimes
initially mistaken for substance abuse).
*
normal pressure hydrocephalus : triad of urinary incontinence, gait
instability, and dementia ("wet, wobbly, and wacky") .
*
Spongiform encephalopathy : rapidly progressive dementia associated
with ataxia (cerebellar involvement) and startle myoclonus .
i. Spike-wave complexes are seen on EEG.
ii. Results in death, usually in < 1 year
*
CNS tumors :
Glioblastoma multiforme
: seizure, nausea and vomiting, headache, memory loss,
and hemiparesis, the single most prevalent symptom is a
progressive memory, personality, or neurological deficit
due to temporal and frontal lobe involvement. The kind
of symptoms produced depends more on the location of
the tumor than on its pathological properties. The tumor
can start producing symptoms quickly, but occasionally
is an asymptomatic condition until it reaches an
enormous size.
*
Meningioma : Often asymptomatic; may present with seizures or focal
neurologic signs .
*
Hemangioblastoma : may be associated with other
diseases such as polycythemia (increased blood
cell count) , pancreatic cysts and Von Hippel-Lindau
syndrome (VHL syndrome).
*
Schwannoma : Involves cranial or spinal nerves; within the cranium,
most frequently involves cranial nerve VIII at the cerebellopontine
angle (presents as loss of hearing and tinnitus) .
*
Pituitary adenoma : mentioned before .
*
Oligodendroglioma : the first symptom of an oligodendroglioma
is the onset of seizure activity. They occur mainly in the frontal
lobe. Headaches combined with increased intracranial
pressure are also a common symptom of oligodendroglioma.
Depending on the location of the tumor, any neurological deficit
can be induced, from visual loss, motor weakness and cognitive
decline .
*
Pilocytic astrocytoma : failure to thrive (lack of appropriate weight
gain), headache, nausea, vomiting, irritability, torticollis (tilt neck or
wry neck) difficulty to coordinate movements and visual complaints
(including nystagmus).
*
Medulloblastoma : The child typically becomes listless, with
repeated episodes of vomiting, and a morning headache, which
may lead to a misdiagnosis of gastrointestinal disease or
migraine. Soon after, the child will develop a stumbling gait,
truncal ataxia, frequent falls, diplopia, papilledema, and sixth
cranial nerve palsy. Positional dizziness and nystagmus are also
frequent and facial sensory loss or motor weakness may be
present.
*
Ependymoma : Can cause hydrocephalus.
*
Craniopharyngioma : present with bitemporal inferior
quadrantanopia leading to bitemporal hemianopsia, as the tumor
may compress the optic chiasm.

Balance disorder , Dry skin , Fatigue , Fever ,


Headache (obstructive hydrocephalus) , Hypersomnia , Lethargy ,
Myxedema , Nausea , Short stature , Polydipsia , Polyuria (diabetes
insipidus) , Vision loss (bitemporal hemianopia) , Vomiting , post
surgical Weight gain .
*
Pinealoma : Can cause Parinaud syndrome (compression of tectum
vertical gaze palsy); obstructive hydrocephalus (compression of
cerebral aqueduct); precocious puberty in males (-hCG production).
*
Seizures :
Partial : Affect single area of the brain. Most commonly
originate in medial temporal lobe. Often preceded by seizure aura; can
secondarily generalize .
A : simple : (consciousness intact) motor, sensory, autonomic,
psychic .
B : complex : (impaired consciousness )
*
Generalized : Diffuse. .
A : absence : no postictal confusion, blank Stare .
B : myoclonic : quick, repetitive jerks .
C : tonic : stiffening
D : atonic : drop seizures (falls to floor); commonly mistaken for
fainting
E : tonic-clonic : alternating stiffening and movement
Status epilepticus : continuous (> 530 min) or recurring seizures that
may result in brain injury.
*
Headaches :
Cluster : Unilateral , 15 min3 hr; repetitive Repetitive brief headaches.
Excruciating periorbital pain with lacrimation and rhinorrhea. May
present with Horner syndrome.
*
Tension : Bilateral > 30 min (typically 46 hr) ; constant Steady pain. No
photophobia or phonophobia. No aura.
*
Migraine : Unilateral 472 hr Pulsating pain with nausea, photophobia,
or phonophobia. May have aura. Due to irritation of CN V, meninges,
or blood vessels (release of substance P, calcitonin gene-related
peptide, vasoactive peptides).
*
trigeminal neuralgia : produces repetitive, unilateral, shooting pain in
the distribution of CN V that lasts (typically) for < 1 minute
*
Vertigo : Sensation of spinning while actually stationary
Peripheral : Positional testing delayed horizontal nystagmus.
Central : directional or purely vertical nystagmus, skew deviation,
diplopia, dysmetria. Positional testing immediate nystagmus in any
direction; may change directions. Focal neurologic findings.
*
Neurocutaneous disorders :
Sturge-weber syn. : port-wine stain of the face A (nevus flammeus, a
non-neoplastic birthmark in CN V1/V2 distribution); ipsilateral
leptomeningeal angioma B seizures/ epilepsy; intellectual disability;
and episcleral hemangioma IOP early-onset glaucoma.
*
Tuberous sclerosis : Hamartomas in CNS and skin; Angiofibromas C ;
Mitral regurgitation; Ash-leaf spots D; cardiac Rhabdomyoma;
(Tuberous sclerosis); autosomal dOminant; Mental retardation
(intellectual disability); renal Angiomyolipoma E ; Seizures, Shagreen
patches.
*
NF type 1 : Caf-au-lait spots F , cutaneous neurofibromas G, optic
gliomas, pheochromocytomas, Lisch nodules (pigmented iris
hamartomas H).
*
NF type 2 : bilateral acoustic schwannomas, juvenile
cataracts, meningiomas, and ependymomas . NF2
affects 2 ears, 2 eyes, and 2 parts of the brain .
*
Von hippel-lindau disease : HARP: Hemangioblastomas
(high vascularity with hyperchromatic nuclei I ) in retina, brain stem,
cerebellum, spine J ; Angiomatosis (eg, cavernous hemangiomas in
skin, mucosa, organs); bilateral Renal cell carcinomas;
Pheochromocytomas .
*
Hearing loss :
Conductive
Sensorineural
Noise induced : Sudden extremely loud noises can produce hearing
loss
Presbycusis : Aging-related sensorineural hearing loss .
*
Otitis media : An integral symptom of acute otitis media is ear
pain; other possible symptoms include fever, and irritability (in
infants). Since an episode of otitis media is usually precipitated by
an upper respiratory tract infection (URTI), there often are
accompanying symptoms like a cough and nasal discharge .
*
Otitis externa : Ear pain is the predominant complaint and the
only symptom directly related to the severity of acute external
otitis. Unlike other forms of ear infections, the pain of acute
external otitis is worsened when the outer ear is touched or
pulled gently . Patients may also experience ear discharge and
itchiness. When enough swelling and discharge in the ear canal
is present to block the opening, external otitis may cause
temporary conductive hearing loss.
*
Otitis interna ( labyrinthitis ) : The main symptom of labyrinthitis is
severe vertigo. Rapid and undesired eye motion (nystagmus) often
results from the improper indication of rotational motion. Nausea,
anxiety, and a general ill feeling are common due to the distorted
balance signals that the brain receives from the inner ear.
This can also be brought on by pressure changes such as those
experienced while flying or scuba diving.

*
meniere's disease : recurrent episodes of vertigo, hearing loss and
tinnitus; episodes may be accompanied by headache and a feeling of
fullness in the ears.
People may also experience additional symptoms related to irregular
reactions of the autonomic nervous system. These symptoms are not
symptoms of Meniere's disease per se, but rather are side effects
resulting from failure of the organ of hearing and balance, and include
nausea, vomiting, and sweatingwhich are typically symptoms of
vertigo, and not of Mnire's. This includes a sensation of being pushed
sharply to the floor from behind.
Sudden falls without loss of consciousness (drop attacks) may be
experienced by some people.

*
Cholesteatoma : The majority (98%) of patients with
cholesteatoma have ear discharge or hearing loss or
both in the affected ear. Other less common symptoms
(all less than 15%) of cholesteatoma may include:
pain, balance disruption, tinnitus, ear
ache, headaches and bleeding from the ear . There can
also be facial nerve weakness.
*
Fascial lesions :
UMN : contralateral paralysis of lower muscles of facial
expression. Forehead is spared due to its bilateral UMN
innervation
LMN : ipsilateral paralysis of upper and lower muscles of
facial expression A , hyperacusis, loss of taste
sensation to anterior tongue. Decreased salivation and
tear secretion .
Fascial nerve palsy : bell palsy : When idiopathic (most common),
facial nerve palsy is called Bell palsy .
*
Refractory errors :
Hyperopia : blurry vision, headaches, and eye strain.
Myopia : blurry distance vision, but generally gives
good near vision .
Astigmatism : Although astigmatism may be asymptomatic,
higher degrees of astigmatism may cause symptoms such as
blurry vision, squinting, eye strain, fatigue, or headaches .
Presbyopia : Aging-related impaired accommodation (focusing
on near objects),
*
Cataract : Optic disc atrophy with characteristic cupping (thinning of
outer rim of optic nerve , usually with elevated intraocular pressure
(IOP) and progressive peripheral visual field loss if untreated.
*
Glaucoma : Optic disc atrophy with characteristic cupping (thinning of
outer rim of optic nerve head versus normal ), usually with elevated
intraocular pressure (IOP) and progressive peripheral visual field loss if
untreated .

Open-angle glaucoma : painless .


Closed- or narrowangle glaucoma :
Chronic closureoften asymptomatic with damage to optic nerve and
peripheral vision
Acute closureVery painful, red eye D, sudden vision loss, halos
around lights, frontal headache, fixed and mid-dilated pupil.
*
Uveitis : May have hypopyon (accumulation of pus in anterior chamber
A ) or conjunctival redness. Associated with systemic inflammatory
disorders (eg, sarcoidosis, rheumatoid arthritis, juvenile idiopathic
arthritis, HLA-B27associated conditions).
*
Age-related macular degeneration : Causes distortion
(metamorphopsia) and eventual loss of central vision (scotomas).
Dry : gradual in vision .
Wet : rapid loss of vision due to bleeding 2 to choroidal
neovascularization .
*
Diabetic retinopathy The symptoms of macular edema
are blurred vision and darkened or distorted images that
are not the same in both eyes. Ten percent (10%) of
diabetic patients will have vision loss related to macular
edema . In the second stage, abnormal new blood
vessels (neovascularisation) form at the back of the eye
as part of proliferative diabetic retinopathy (PDR); these
can burst and bleed (vitreous hemorrhage) and blur the
vision, because these new blood vessels are fragile. The
first time this bleeding occurs, it may not be very severe.
In most cases, it will leave just a few specks of blood, or
spots floating in a person's visual field, though the spots
often go away after few hours.
*
Retinal vein occlusion : sudden blurred vision or a loss of vision.
*
Retinal detachment : vision loss , Often preceded by posterior vitreous
detachment (flashes and floaters) and eventual monocular loss of
vision like a curtain drawn down.
*
Central retinal artery occlusion : Acute, painless monocular vision loss.
*

Retinitis pigmentosa :

Early RP symptoms: Loss of night vision, making it harder to drive at


dusk or night or to see in dimly lit rooms.

Later RP symptoms: Loss of side (peripheral) vision, leading to


tunnel vision -- like looking through a straw.
Sometimes you lose central vision first. Then, reading or doing close
work isn't easy. This loss of central vision also affects color vision.

Symptoms of CMV retinitis. In early stages, CMV retinitis causes no


symptoms.
You may develop symptoms, first in one eye, over a few days.
Symptoms may include:
Floaters (specks or clouds in your field of vision)
Blurred vision
Loss of side vision

Just as with RP, symptoms may occur first with central vision. This affects
reading and perception of color.
*
Papilledema : Papilledema may be asymptomatic or present with
headache in the early stages. However it may progress to enlargement
of the blind spot, blurring of vision, visual obscurations (inability to see
in a particular part of the visual field for a period of time) and
ultimately total loss of vision may occur.
*
Marcus gunn pupil : bilateral papillary constriction when light is
shone in affected eye relative to unaffected eye.
*
Horner syndrome : Sympathetic denervation of face :
Ptosis (slight drooping of eyelid: superior tarsal muscle)
Anhidrosis (absence of sweating) and flushing of affected side of face
Miosis (pupil constriction) Associated with lesion of spinal cord above
T1 (eg, Brown-Squard syndrome, late-stage syringomyelia) or of the
stellate ganglion alongside the spinal cord (eg, Pancoast tumor).
Any interruption results in Horner syndrome.
*
CN III palsy : ptosis, down and out gaze. Diminished or absent
pupillary light reflex, blown pupil often with down-and-out gaze .
*
IV palsy : Eye moves upward, particularly with
contralateral gaze B (problems going down
stairs, may present with compensatory head tilt
in the opposite direction).
*
VI palsy : Medially directed eye that cannot abduct .
*
Visual field defects :

*
Cavernous sinus syndromepresents with variable ophthalmoplegia,
corneal sensation, Horner syndrome and occasional decreased
maxillary sensation. 2 to pituitary tumor mass effect, carotid-
cavernous fistula, or cavernous sinus thrombosis related to infection.
CN VI is most susceptible to injury.
*
Internuclear ophthalmoplegia : Lesion in MLF = internuclear
ophthalmoplegia (INO), a conjugate horizontal gaze palsy. Lack of
communication such that when CN VI nucleus activates ipsilateral
lateral rectus, contralateral CN III nucleus does not stimulate
medial rectus to contract. Abducting eye gets nystagmus (CN VI
overfires to stimulate CN III). Convergence normal.
*

Psychiatry
Transference : Patient projects feelings about formative or other
important persons onto physician (eg, psychiatrist is seen as parent)
Countertranference : Doctor projects feelings about formative or other
important persons onto patient (eg, patient reminds physician of
younger sibling).
*
Ego defences : Mental processes (unconscious or conscious) used to
resolve conflict and prevent undesirable feelings (eg, anxiety,
depression).
Immature defences :
Acting out : Expressing unacceptable feelings and thoughts through
actions.
Denial Avoiding the awareness of some painful reality.
Displacement Redirection of emotions or impulses to a neutral person
or object (vs projection).
Dissociation Temporary, drastic change in personality,
memory, consciousness, or motor behavior to avoid emotional stress.
Patient has incomplete or no memory of traumatic event.
Fixation Partially remaining at a more childish level of
development (vs regression).
Idealization Expressing extremely positive thoughts of self
and others while ignoring negative thoughts.
Identification Largely unconscious assumption of the
characteristics, qualities, or traits of another person or group.
Intellectualization Using facts and logic to emotionally distance oneself
from a stressful situation.
Isolation (of affect) Separating feelings from ideas and events.
Passive aggression Demonstrating hostile feelings in a
nonconfrontational manner; showing indirect opposition.
Projection Attributing an unacceptable internal impulse to
an external source (vs displacement).
Rationalization Proclaiming logical reasons for actions actually
performed for other reasons, usually to avoid
self-blame.
Reaction formation Replacing a warded-off idea or feeling by an
(unconsciously derived) emphasis on its opposite (vs sublimation).
Regression Involuntarily turning back the maturational
clock and going back to earlier modes of dealing with the world (vs
fixation).
Repression Involuntarily withholding an idea or feeling
from conscious awareness (vs suppression).
Splitting Believing that people are either all good or
all bad at different times due to intolerance of ambiguity. Commonly
seen in borderline personality disorder.
Mature defences :
Sublimation Replacing an unacceptable wish with a course of action
that is similar to the wish but does
not conflict with ones value system (vs reaction formation).
Altruism Alleviating negative feelings via unsolicited
generosity.
Suppression Intentionally withholding an idea or feeling from
conscious awareness (vs repression); temporary.
Humor Appreciating the amusing nature of an anxietyprovoking or
adverse situation.
*

Infant deprivation : Long-term deprivation of affection results in:


Failure to thrive
Poor language/socialization skills
Lack of basic trust
Reactive attachment disorder (infant
withdrawn/unresponsive to comfort)
Deprivation for > 6 months can lead to
irreversible changes.
Severe deprivation can result in infant death.
*
Child abuse :
Physical : Fractures (eg, ribs, long bone spiral, multiple
in different stages of healing), bruises (eg,
trunk, ear, neck; in pattern of implement),
burns (eg, cigarette, buttocks/thighs), subdural
hematomas, retinal hemorrhages. During
exam, children often avoid eye contact
Sexual : Genital, anal, or oral trauma; STIs; UTIs.
*
Child neglect : Failure to provide a child with adequate food, shelter,
supervision, education, and/or affection.
Most common form of child maltreatment. Evidence: poor hygiene,
malnutrition, withdrawal, impaired social /emotional development,
failure to thrive.
*
Vulnerable child syndrome : Parents perceive the child as especially
susceptible to illness or injury. Usually follows a serious illness or life-
threatening event. Can result in missed school or overuse of medical
services.
*
Attention deficit hyperactivity disorder : Onset before age 12. Limited
attention span and poor impulse control. Characterized by
hyperactivity, impulsivity, and/or inattention in multiple settings
(school, home, places of worship, etc). Normal intelligence, but
commonly coexists with difficulties in school.
*
Conduct disorder : Repetitive and pervasive behavior violating the
basic rights of others or societal norms (eg, aggression to people and
animals, destruction of property, theft). After age 18 .
*
Oppositional defiant disorder : Enduring pattern of hostile, defiant
behavior toward authority figures in the absence of serious violations
of social norms.
*
Separation anxiety dis. : Overwhelming fear of separation from home
or attachment figure. Can be normal behavior up to age 34. May lead
to factitious physical complaints to avoid school.
*
Tourette syn. : Onset before age 18. Characterized by sudden, rapid,
recurrent, nonrhythmic, stereotyped motor and vocal tics that persist
for > 1 year. Coprolalia (involuntary obscene speech) found in only 10
20% of patients. Associated with OCD and ADHD.
*
Autism spectrum : Characterized by poor social interactions, social
communication deficits, repetitive/ritualized behaviors, restricted
interests. Must present in early childhood. May be accompanied by
intellectual disability; rarely accompanied by unusual
abilities (savants ) .
*
Rett syn. : Symptoms usually become apparent around ages 14,
including regression characterized by loss of development, loss of
verbal abilities, intellectual disability, ataxia, stereotyped hand-
wringing.
*
Disruptive mood dysregulation disorder : Onset before age 10. Severe
and recurrent temper outbursts out of proportion to situation. Child is
constantly angry and irritable between outbursts.
*
Amnesias :
Retrograde : Inability to remember things that occurred
before a CNS insult.
Anterograde : Inability to remember things that
occurred after a CNS insult ( acquisition of new
memory).
Korsakoff : Amnesia (anterograde > retrograde) ,
Confabulations are characteristic.
Dissociative : Inability to recall important personal information, usually
subsequent to severe trauma or stress.
May be accompanied by dissociative fugue (abrupt travel or wandering
during a period of dissociative amnesia, associated with traumatic
circumstances).
*
Dissociative disorders
Dissociative identity disorder
Formerly known as multiple personality disorder. Presence of 2 or
more distinct identities or
personality states. More common in women. Associated with history of
sexual abuse, PTSD, depression, substance abuse, borderline
personality, somatoform conditions.
Depersonalization/ derealization disorder
Persistent feelings of detachment or estrangement from ones own
body, thoughts, perceptions, and actions (depersonalization) or ones
environment (derealization).
*
Delirium : Waxing and waning level of consciousness
with acute onset; rapid in attention span and level of arousal.
Characterized by disorganized thinking, hallucinations (often visual),
illusions, misperceptions, disturbance in sleepwake cycle, cognitive
dysfunction.
*
Dementia : in intellectual function without affecting
level of consciousness. Characterized by memory deficits, apraxia,
aphasia, agnosia, loss of abstract thought, behavioral/personality
changes, impaired judgment. A patient with dementia can develop
delirium (eg, patient with Alzheimer disease who develops
pneumonia is at risk for delirium).
*
Psychosis : Distorted perception of reality characterized by delusions,
hallucinations, and/or disorganized
thought/speech.

Delusions Unique, false, fixed, idiosyncratic beliefs that persist despite


the facts and are not typical of a patients culture or religion (eg,
thinking aliens are communicating with you). Types include
erotomanic, grandiose, jealous, persecutory, somatic, mixed, and
unspecified.

Disorganized thought Speech may be incoherent (word


salad), tangential, or derailed (loose associations) .
Hallucinations Perceptions in the absence of external stimuli (eg,
seeing a light that is not actually present).
Contrast with illusions, misperceptions of real external
stimuli.
Hallucination types :
Visualmore commonly a feature of medical illness (eg, drug
intoxication) than psychiatric illness.
Auditorymore commonly a feature of psychiatric illness (eg,
schizophrenia) than medical illness.
Olfactoryoften occur as an aura of temporal lobe epilepsy (eg,
burning rubber) and in brain tumors.
Gustatoryrare, but seen in epilepsy.
Tactilecommon in alcohol withdrawal and stimulant use (eg,
cocaine, amphetamines), delusional parasitosis, cocaine crawlies.
Hypnagogicoccurs while going to sleep. Sometimes seen in
narcolepsy.
Hypnopompicoccurs while waking from sleep (pompous upon
awakening). Sometimes seen in narcolepsy.
*
Schizophrenia :
Chronic mental disorder with periods of psychosis, disturbed behavior
and thought, and decline in functioning lasting > 6 months.
Diagnosis requires at least 2 of the following, and at least 1 of these
should include 13 (first 4 are positive symptoms):
1. Delusions
2. Hallucinationsoften auditory
3. Disorganized speech
4. Disorganized or catatonic behavior
5. Negative symptoms (affective flattening,
avolition, anhedonia, asociality, alogia) .
*
Brief psychotic disorder : lasting < 1 month, usually stress related.
*
Schizophreniform disorder : lasting 16 months.
*
Schizoaffective disease : Meets criteria for schizophrenia in addition to
major mood disorder (major depressive or bipolar). To differentiate
from a major mood disorder with psychotic features, patient must have
> 2 weeks of hallucinations or delusions without major mood episode.
*
Delusional disorder : Fixed, persistent, false belief system lasting > 1
month. Functioning otherwise not impaired .

*
Manic episode : Distinct period of abnormally and persistently
elevated, expansive, or irritable mood and abnormally and persistently
activity or energy lasting at least 1 week .
Diagnosis requires hospitalization or at least 3 of the following (manics
DIG FAST):
Distractibility
Irresponsibilityseeks pleasure without
regard to consequences (hedonistic)
Grandiosityinflated self-esteem
Flight of ideasracing thoughts
in goal-directed Activity/psychomotor
Agitation
need for Sleep
Talkativeness or pressured speech .
*
Hypomanic episode : Like a manic episode except mood disturbance is
not severe enough to cause marked impairment in social and/or
occupational functioning or to necessitate hospitalization .
*
Bipolar disorder :
Bipolar I defined by presence of at least 1 manic episode +/ a
hypomanic or depressive episode.
Bipolar II defined by presence of a hypomanic and a depressive
episode. Patients mood and functioning usually return to normal
between episodes.
*
Major depressive dis. : Episodes characterized by at least 5 of the 9
diagnostic symptoms lasting 2 weeks (symptoms must include
patientreported depressed mood or anhedonia).
Diagnostic symptoms:
SIG E CAPS:
Depressed mood
Sleep disturbance
Loss of Interest (anhedonia)
Guilt or feelings of worthlessness
Energy loss and fatigue
Concentration problems
Appetite/weight changes
Psychomotor retardation or agitation
Suicidal ideations .
*
Persistent depressive dis. ( dysthymia ) : depression, often milder,
lasting at least 2 years.
*
Atypical depression : Characterized by mood reactivity (being able to
experience improved mood in response to positive events, albeit
briefly), reversed vegetative symptoms (hypersomnia, hyperphagia),
leaden paralysis (heavy feeling in arms and legs), long-standing
interpersonal rejection sensitivity.
*
Postpartum mood disorder :
Maternal postpartum blues : depressed affect, tearfulness , and
fatigue starting 23 days after delivery. Usually resolves within 10 days.
Postpartum depression : depressed affect, anxiety, and poor
concentration for 2 weeks.
Postpartum psychosis : mood-congruent delusions, hallucinations, and
thoughts of harming the baby or self.
*
Pathlogical grief : The five stages of grief per the Kbler-Ross model
are denial, anger, bargaining, depression, and acceptance, not
necessarily in that order. Other normal grief symptoms include shock,
guilt, sadness, anxiety, yearning, and somatic symptoms. Simple
hallucinations of the deceased person are common (eg, hearing the
deceased speaking). Duration varies widely; usually < 6 months.
Pathologic grief is persistent and causes functional impairment. Can
meet criteria for major depressive episode.
*
Anxiety dis. : Inappropriate experience of fear/worry and its physical
manifestations (anxiety) incongruent with the magnitude of the
perceived stressor. Symptoms interfere with daily functioning and are
not attributable to another mental disorder, medical condition, or
substance abuse. Includes panic disorder , phobias, generalized anxiety
disorder, and selective mutism.
*
Panic dis. : recurrent panic attacks (periods of intense fear and
discomfort peaking in 10 minutes with at least 4 of the following):
Palpitations, Paresthesias, dePersonalization or derealization,
Abdominal distress or Nausea, Intense fear of dying, Intense fear of
losing control or going crazy, lIght-headedness, Chest pain, Chills,
Choking, Sweating, Shaking, Shortness of breath.
*
Specific phobia : Severe, persistent ( 6 months) fear or anxiety due to
presence or anticipation of a specific object or situation. Person often
recognizes fear is excessive .
A / Social anxiety dis. : exaggerated fear of embarrassment in social
situations (eg, public
speaking, using public restrooms).
B / Agoraphobia : irrational fear/anxiety while facing or anticipating
2 specific situations (eg, open/closed spaces , lines, crowds, public
transport). If severe, patients may refuse to leave their homes.
Associated with panic disorder.
*
Generalized anxiety dis. : Anxiety lasting > 6 months unrelated to a
specific person, situation, or event. Associated with restlessness,
irritability, sleep disturbance, fatigue, muscle tension, difficulty
concentrating.
*
Adjustment disorderemotional symptoms (anxiety, depression) that
occur within 3 months of an identifiable psychosocial stressor (eg,
divorce, illness) lasting < 6 months once the stressor has ended. If
stressor lasts > 6 months and causes continual impairment, it is GAD.
*
Obsessive compulsive dis. : Recurring intrusive thoughts, feelings, or
sensations (obsessions) that cause severe distress; relieved in part by
the performance of repetitive actions (compulsions). Ego-dystonic:
behavior inconsistent with ones own beliefs and attitudes (vs
obsessive-compulsive personality disorder).
Associated with Tourette syndrome.
*
Body dysmorphic disorderpreoccupation with minor or imagined
defect in appearance significant emotional distress or impaired
functioning; patients often repeatedly seek cosmetic treatment.
*
Post traumatic stress dis. : Exposure to prior trauma (eg, witnessing
death, experiencing serious injury or rape) persistent Hyperarousal,
Avoidance of associated stimuli, intrusive Reexperiencing of the event
(nightmares, flashbacks), changes in cognition or mood (fear, horror,
Distress) (having PTSD is HARD).
Disturbance lasts > 1 month with significant distress or impaired social-
occupational functioning.
*
Acute stress disorder : lasts between 3 days and 1 month.
*
Malingering : Patient consciously fakes, profoundly exaggerates, or
claims to have a disorder in order to attain a specific 2 (external) gain
(eg, avoiding work, obtaining compensation). Poor compliance with
treatment or follow-up of diagnostic tests. Complaints cease after gain
(vs factitious disorder).
*
Factitious dis. : Patient consciously creates physical and/or
psychological symptoms in order to assume sick role and to get
medical attention and sympathy (1 [internal] gain).
A : munchausen syn. (Factitious disorder imposed on self ) : Chronic
factitious disorder with predominantly physical signs and symptoms.
Characterized by a history of multiple hospital admissions and
willingness to undergo invasive procedures .
B : munchausen syn. By proxy (Factitious disorder imposed on
another ) : Illness in a child or elderly patient is caused or fabricated by
the caregiver. Motivation is to assume a sick role by proxy. Form of
child/elder abuse.
*
Somatic symptoms and related disorders : Category of disorders
characterized by physical symptoms causing significant distress and
impairment. Both illness production and motivation are unconscious
drives. Symptoms not intentionally produced or feigned.
A : conversion dis. (functional neurologic symptom disorder) : Loss of
sensory or motor function (eg, paralysis, blindness, mutism), often
following an acute stressor; patient is aware of but sometimes
indifferent toward symptoms (la belle indiffrence);
B : illness anxiety dis. ( hypochondriasis ) : Excessive preoccupation
with acquiring or having a serious illness, often despite medical
evaluation and reassurance; minimal somatic symptoms.
C : somatic symptom disorder : Variety of bodily complaints (eg, pain,
fatigue) lasting for months to years. Associated with excessive,
persistent thoughts and anxiety about symptoms. May co-occur with
medical illness.

Personality disorders
Cluster A personality disorders : Odd or eccentric; inability to develop
meaningful social relationships. No psychosis .
Paranoid : Pervasive distrust (Accusatory) and suspiciousness of others
and a profoundly cynical view of the world.
*
Schizoid : Voluntary social withdrawal (Aloof), limited emotional
expression, content with social isolation (vs avoidant).
*
Schizotypal : Eccentric appearance, odd beliefs or magical thinking,
interpersonal Awkwardness.
*
Cluster B personality disorders : Dramatic, emotional, or erratic;
genetic association with mood disorders and substance abuse.
*
Antisocial : Disregard for and violation of rights of others with lack of
remorse, criminality, impulsivity; males > females; must be 18 years
old and have history of conduct disorder before age 15.
Conduct disorder if < 18 years old.
*
Borderline : Unstable mood and interpersonal relationships,
impulsivity, self-mutilation, suicidality, sense of emptiness; females >
males; splitting is a major defense mechanism.
*
Histrionic : Excessive emotionality and excitability, attention seeking,
sexually provocative, overly concerned with appearance.
*
Narsissistic : Grandiosity, sense of entitlement; lacks empathy and
requires excessive admiration; often demands the best and reacts to
criticism with rage.
*
Cluster C personality disorders : Anxious or fearful; genetic association
with anxiety disorders.
*
Avoidant : Hypersensitive to rejection, socially inhibited,
timid, feelings of inadequacy, desires relationships with others (vs
schizoid).
*
Obsessive-compulsive : Preoccupation with order, perfectionism, and
control; ego-syntonic: behavior consistent with ones own beliefs and
attitudes (vs OCD).
*
Dependent : Submissive and Clingy, excessive need to be taken care of,
low self-confidence .
*
Eating disorders :
Anorexia nervosa : Excessive dieting, exercise, or binge eating/purging
with BMI < 18.5 kg/m2; intense fear of gaining weight; and distortion
or overvaluation of body image. Associated with bone density,
severe weight loss, metatarsal stress fractures, amenorrhea (due to
loss of pulsatile GnRH secretion), lanugo, anemia, electrolyte
disturbances. Commonly coexists with depression .
*
Bulimia nervosa : Binge eating with recurrent inappropriate
compensatory behaviors (eg, self-induced vomiting, using laxatives or
diuretics, fasting, excessive exercise) occurring weekly for at least 3
months and overvaluation of body image. Body weight often
maintained within normal range. Associated with parotitis, enamel
erosion, electrolyte disturbances (eg, hypokalemia, hypochloremia),
metabolic alkalosis, dorsal hand calluses from induced vomiting
(Russell sign).
*
Bing eating disorder : Regular episodes of excessive, uncontrollable
eating without inappropriate compensatory behaviors.
*

Gender dysphoria : Persistent cross-gender identification that leads to


persistent distress with sex assigned at birth.
Transsexualism : desire to live as the opposite sex, often through
surgery or hormone treatment.
Transvestim : paraphilia, not gender dysphoria. Wearing clothes (eg,
vest) of the opposite sex (cross-dressing).
*
Sexual dysfunction :
Sexual desire dis. :
a: hypoactive sexual desire or sexual aversion : persistently or
recurrently deficient (or absent) sexual/erotic thoughts or fantasies
and desire for sexual activity .
Sexual arousal dis.
a: erectile dysfunction : the inability to develop or maintain
an erection of the penis during sexual activity in humans .
Orgasmic dis.
a: anorgasmia : a type of sexual dysfunction in which a person cannot
achieve orgasm despite adequate stimulation. In males, it is most
closely associated with delayed ejaculation. Anorgasmia can often
cause sexual frustration.
b: premature ejaculation : occurs when a man
experiences orgasm and expels semen soon after sexual activity and
with minimal penile stimulation.
Sexual pain dis.
a: dyspareunia : is painful sexual intercourse due to medical or
psychological causes. The pain can primarily be on the external surface
of the genitalia, or deeper in the pelvis upon deep pressure against
the cervix. It can affect a small portion of the vulva or vagina or be felt
all over the surface.
b: vaginismus : is a condition that affects a woman's ability to engage
in vaginal penetration, including sexual intercourse, manual
penetration, insertion of tampons or menstrual cups, and the
penetration involved in gynecological examinations (pap tests). This is
the result of an involuntary vaginal muscle spasm, which makes any
kind of vaginal penetration painful or impossible
*
Sleep terror disorder : Inconsolable periods of terror with screaming in
the middle of the night; occurs during slow-wave/ deep (stage N3)
sleep.
*
Narcolepsy : Disordered regulation of sleep-wake cycles; 1
characteristic is excessive daytime sleepiness (awaken feeling rested).
associated with:
Hypnagogic (just before sleep) or
hypnopompic (just before awakening)
hallucinations.
Nocturnal and narcoleptic sleep episodes
that start with REM sleep (sleep paralysis).
Cataplexy (loss of all muscle tone following
strong emotional stimulus, such as laughter)
in some patients.
*
Substance abuse : Maladaptive pattern of substance use defined as 2
or more of the following signs in 1 year related specifically to substance
use:
Toleranceneed more to achieve same effect
Withdrawalmanifesting as characteristic signs and symptoms
Substance taken in larger amounts, or over longer time, than desired
Persistent desire or unsuccessful attempts to cut down
Significant energy spent obtaining, using, or recovering from
substance
Important social, occupational, or recreational activities reduced
Continued use despite knowing substance causes physical and/or
psychological problems
Craving
Recurrent use in physically dangerous situations
Failure to fulfill major obligations at work, school, or home
Social or interpersonal conflicts
INTOXICATION AND WITHDRAWAL OF :
Depressants : intox : Nonspecific: mood elevation, anxiety, sedation,
behavioral disinhibition, respiratory
depression.
Withd : Nonspecific: anxiety, tremor, seizures, insomnia.
*
Alcohol : intox : Emotional lability, slurred speech, ataxia,
coma, blackouts.
Withd : Time from last drink:
336 hr: minor symptoms similar to other depressants
648 hr: withdrawal seizures
1248 hr: alcoholic hallucinosis (usually visual)
4896 hr: delirium tremens (DTs) in 5% of Cases .
*
opioids (morphine , heroin , methadone ) : intox : Euphoria,
respiratory and CNS depression, gag reflex, pupillary constriction
(pinpoint pupils), seizures (overdose). Most common cause of drug
overdose death.
Withd : Sweating, dilated pupils, piloerection (cold turkey), fever,
rhinorrhea, yawning, nausea, stomach cramps, diarrhea (flu-like
symptoms).
*
barbiturate : intox : Low safety margin, marked respiratory depression.
Withd : Delirium, life-threatening cardiovascular collapse.
*
benzodiazepines :
intox : Greater safety margin. Ataxia, minor respiratory depression.
withd : Sleep disturbance, depression, rebound anxiety,
seizure.
*
Stimulants :
Intox : Nonspecific: mood elevation, psychomotor agitation, insomnia,
cardiac arrhythmias, tachycardia, anxiety.
withd : Nonspecific: post-use crash, including depression , lethargy,
appetite, sleep disturbance, vivid nightmares.
*
amphetamine :
intox : Euphoria, grandiosity, pupillary dilation, prolonged wakefulness
and attention, hypertension, tachycardia, anorexia, paranoia, fever.
Severe: cardiac arrest, seizures.
*
cocaine :
intox : Impaired judgment, pupillary dilation, hallucinations (including
tactile), paranoid ideations, angina, sudden cardiac death.
*
caffeine :
intox : Restlessness, diuresis, muscle twitching.
withd : Headache, difficulty concentrating, flu-like symptoms.
*
nicotine
intox : Restlessness.
withd : Irritability, anxiety, restlessness, difficulty concentrating.
Treatment: nicotine patch, gum, or lozenges; bupropion/varenicline.
*
Hallucinogens :
PCP :
intox : Violence, impulsivity, psychomotor agitation, nystagmus,
tachycardia, hypertension, analgesia, psychosis, delirium, seizures.
Trauma is most common complication.
*
LCD :
intox : Perceptual distortion (visual, auditory), depersonalization ,
anxiety, paranoia, psychosis, possible flashbacks.
*
marijuana ( cannabinoids)
intox : Euphoria, anxiety, paranoid delusions, perception of slowed
time, impaired judgment, social withdrawal, appetite, dry mouth,
conjunctival injection, hallucinations.
Withd : Irritability, anxiety, depression, insomnia,
restlessness, appetite.
*
MDMA (ecstasy)
Intox : Hallucinogenic stimulant: euphoria, disinhibition, hyperactivity,
distorted sensory and time perception, teeth clenching. Lifethreatening
effects include : hypertension, tachycardia, hyperthermia,
hyponatremia , serotonin syndrome.

Withd : Depression, fatigue, change in appetite, difficulty


concentrating, anxiety.
**
Delirium tremens : Life-threatening alcohol withdrawal syndrome that
peaks 24 days after last drink.
Characterized by autonomic hyperactivity (eg, tachycardia , tremors,
anxiety, seizures), electrolyte disturbances, respiratory alkalosis.
Classically occurs in hospital setting (eg, 24 days postsurgery) in
alcoholics not able to drink as inpatients.
**
Musculoskeletal system
Common pediatric fractures :
Greenstick fracture Incomplete fracture extending partway through
width of bone following bending stress;
bone is bent like a green twig.

Torus fracture Axial force applied to immature bone simple


buckle fracture of cortex . Can be very subtle.
*
Common knee conditions :
Unhappy triad : Presents with acute knee pain and signs of joint injury/
instability.
Prepatellar bursitis : swelling of the area around the kneecap. It
generally does not produce a significant amount of pain unless
pressure is applied directly to the swelling . The area of swelling may be
red (erythema), warm to the touch, or surrounded by cellulitis,
particularly if the area has become infected. In such cases, the bursitis
is often accompanied by fever. Unlike arthritis, prepatellar bursitis
generally does not affect the range of motion of the knee, though it
may cause some discomfort when the knee is completely flexed.
Flexion and extension of the knee may cause crepitus.
Baker cyst : Often a Baker's cyst causes no pain. When symptoms occur,
they may include:

Tightness or stiffness behind the knee.


Swelling behind the knee that may get worse when you stand.
Slight pain behind the knee and into the upper calf. You are most
likely to feel this when you bend your knee or straighten it all the
way.
Sometimes the pocket of fluid behind the knee can tear open and drain
into the tissues of the lower leg. This can cause swelling and redness in
that part of the leg.
*

Medial epicondylitis (golfers elbow) : Repetitive flexion (forehand


shots) or idiopathic pain near medial epicondyle.
*
Lateral epicondylitis (tennis elbow) : Repetitive extension (backhand
shots) or idiopathic pain near lateral epicondyle.
*
Carpal tunnel syn. : Entrapment of median nerve in carpal tunnel;
nerve compression paresthesia, pain, and numbness in distribution
of median nerve (thenar eminence atrophies but sensation spared,
because palmar cutaneous branch enters the hand external to carpal
tunnel).
*
Guyon canal syndrome : Compression of ulnar nerve at wrist or
hand.
**
Upper extremity nerves injuries :
Axillary : Flattened deltoid , Loss of arm abduction at shoulder (> 15) ,
Loss of sensation over deltoid muscle and lateral arm .
*
Musculocutaneous : Loss of forearm flexion and supination Loss of
sensation over lateral forearm .
*
Radial : Wrist drop: loss of elbow, wrist, and finger Extension grip
strength (wrist extension necessary for maximal action of flexors) ,
Loss of sensation over posterior arm/forearm and dorsal hand .
*
Median : Ape hand and Popes blessing Loss of wrist flexion,
flexion of lateral fingers, thumb opposition, lumbricals of 2nd and 3rd
digits , Loss of sensation over thenar eminence and dorsal and palmar
aspects of lateral 312 fingers with proximal lesion .
*
Ulnar : Ulnar claw on digit extension Radial deviation of wrist upon
flexion (proximal lesion) Loss of wrist flexion, flexion of medial fingers,
abduction and adduction of fingers (interossei), actions of medial 2
lumbrical muscles , Loss of sensation over medial 11/2 fingers including
hypothenar eminence .
*
Recurrent branch of median nerve : Ape handLoss of thenar muscle
group: opposition, abduction, and flexion of thumb , No loss of
sensation .
*
Brachial plexus lesions ( muscle deficient and function deficient ) :
Erb palsy : Deltoid, Supraspinatus : Abduction (arm
hangs by side)
Infraspinatus : Lateral rotation (arm medially rotated)
Biceps brachii : Flexion, supination (arm extended and pronated) .
*
Klumpe palsy : Intrinsic hand muscles: lumbricals,
interossei, thenar, hypothenar : Total claw hand: lumbricals normally
flex MCP joints and extend DIP and PIP joints .
*
Thoracic outlet syn. : muscle deficient Same as Klumpke
Palsy : Atrophy of intrinsic hand muscles; ischemia, pain, and edema
due to vascular compression .
Winged scapula : Serratus anterior Inability to anchor
scapula to thoracic cage cannot abduct arm above
horizontal position
*
Distortions of the hand :

*
Lower extremity nerves :
*
Lumbosacral radiculopathy : Paresthesia and weakness related to
specific lumbosacral spinal nerves .

**
Achondroplasia : Failure of longitudinal bone growth (endochondral
ossification) short limbs. Membranous ossification is affected
large head relative to limbs.
*
Ostegenesis imperfect : l. Multiple fractures of bone (can mimic child
abuse, but bruising is absent)
2. Blue sclera- Thinning of scleral collagen reveals underlying choroidal
veins.
3. Hearing loss-Bones of the middle ear easily fracture .
*
Osteoporosis : Osteoporosis itself has no symptoms; its main
consequence is the increased risk of bone fractures.
Osteoporotic fractures occur in situations where healthy people would
not normally break a bone; they are therefore regarded as fragility
fractures. Typical fragility fractures occur in the vertebral column, rib,
hip and wrist .
Can lead to vertebral compression fractures acute back pain, loss of
height, kyphosis. Also can present with fractures of femoral neck, distal
radius (Colles fracture).
*
Rickets : due to low vitamin D in children , Most commonly arises in
children < 1 year of age; presents with
i. Pigeon-breast deformity-inward bending of the ribs with anterior
protrusion of the sternum
ii. Frontal bossing (enlarged forehead)-due to osteoid deposition on the
skull
iii. Rachitic rosary- due to osteoid deposition at the costochondral
junction
iv. Bowing of the legs may be seen in ambulating children.
*
Osteomalacia : due to low vitamin D in adults. (bone pain and muscle
weakness), hypocalcemic tetany .
*
Osteopetrosis : thickened, dense bones that are prone to fracture ,
Bone fills marrow space pancytopenia, extramedullary
hematopoiesis. Can result in cranial nerve impingement and palsies as
a result of narrowed foramina.( Vision and hearing impairment ) ,
Hydrocephalus-due to narrowing of the foramen magnum .
*
Paget disease of bone :
1. Bone pain- due to microfractures
2. Increasing hat size- Skull is commonly affected.
3. Hearing loss-impingement on cranial nerve
4. Lion-like facies - involvement of craniofacial bones
5. Isolated elevated alkaline phosphatase-most common cause of
isolated elevated
alkaline phosphatase in patients> 40 years old
6. blood flow from arteriovenous shunts may cause high-output
heart failure. risk of osteogenic sarcoma.
*

Osteomyelitis :
l. Bone pain with systemic signs of infection (e.g., fever and
leukocytosis)
2. Lytic focus (abscess) surrounded by sclerosis of bone on x-ray; lytic
focus is called sequestrum, and sclerosis is called involucrum.
*
Avascular necrosis ( osteonecrosis ) : Infarction of bone and marrow,
usually very painful. Most common site is femoral head
**
Bone tumors :
Osteoma
Osteoid osteoma : Presents as bone pain that resolves with aspirin .
Osteochondroma : Limited normal functions and movements , Some of
the most common symptoms are a hard immobile painless palpable
mass, adjacent muscle soreness, and pressure or irritation with heavy
exercising.[3] Major symptoms arise when complications such as
fractures, bone deformity or mechanical joint problems occur. If the
occurrence of an osteochondroma is near a nerve or a blood vessel, the
affected limb can experience numbness, weakness, loss of pulse or
color change.
Osteosarcoma : Presents as a pathologic fracture or bone pain with
swelling
Giant cell tumor : Patients usually present with pain and limited range
of motion caused by tumor's proximity to the joint space. Swelling may
occur, as well, if the tumor has been growing for a long time. Some
patients may be asymptomatic until they develop a pathologic
fracture at the site of the tumor.
Ewing sarcoma : Signs and symptoms include:
intermittent fevers, anemia, leukocytosis, increased sedimentation
rate, and other symptoms of inflammatory systemic illness.
Chondroma

Chondrosarcoma :
Back or thigh pain
Sciatica
Bladder Symptoms
Unilateral edema
*
Metastatic tumors
**
Joint
Degenerative joint disease ( osteoarthritis ) : Pain in weight-bearing
joints after use (eg, at the end of the day), improving with rest.
Asymmetric joint involvement. Knee cartilage loss begins medially
(bowlegged). No systemic symptoms.
*
Rheumatoid arthritis : Pain, swelling, and morning stiffness lasting > 1
hour, improving with use. Symmetric joint involvement. Systemic
symptoms (fever, fatigue, weight loss). Extraarticular manifestations
common. *Extraarticular manifestations include rheumatoid nodules
(fibrinoid necrosis with palisading histiocytes) in subcutaneous tissue
and lung (+ pneumoconiosis Caplan syndrome), interstitial lung
disease, pleuritis, pericarditis, anemia of chronic disease, neutropenia +
splenomegaly (Felty syndrome), AA amyloidosis, Sjgren syndrome,
scleritis, carpal tunnel syndrome.
*
Sjogren syndrome : Findings:
Inflammatory joint pain
Keratoconjunctivitis sicca ( tear production
and subsequent corneal damage)
Xerostomia ( saliva production )
Presence of antinuclear antibodies,
rheumatoid factor (can be in the absence of
rheumatoid arthritis), antiribonucleoprotein
antibodies: SS-A (anti-Ro) and/or SS-B (anti-
La)
Bilateral parotid enlargement .
Complications: dental caries; mucosa-associated lymphoid tissue
(MALT) lymphoma (may present as parotid enlargement).
*
Seronegative spondyloarthropathies : Subtypes (PAIR) share variable
occurrence of inflammatory back
pain (associated with morning stiffness, improves with exercise),
peripheral arthritis, enthesitis (inflamed insertion sites of tendons, eg,
Achilles), dactylitis (sausage fingers), uveitis.
*
Ankilosing spondylitis : Symmetric involvement of spine and sacroiliac
joints ankylosis (joint fusion), uveitis, aortic regurgitation.
*
Reiter syndrome ( reactive ) : Formerly known as Reiter syndrome.
Classic triad:
Conjunctivitis
Urethritis
Arthritis
*
Psoriatic arthritis : Associated with skin psoriasis and nail lesions.
Asymmetric and patchy involvement .
*
Inflammatory bowel disease : Crohn disease and ulcerative colitis are
often associated with spondyloarthritis.
*
Infectious arthritis : Affected joint is swollen , red, and painful. Synovial
fluid purulent (WBC > 50,000/mm3).
*
Gonococcal arthritis: STI that presents as either purulent arthritis (eg,
knee) or triad of polyarthralgia, tenosynovitis (eg, hand), dermatitis (eg,
pustules).
*
Gout : Asymmetric joint distribution. Joint is swollen, red, and painful.
Classic manifestation is painful MTP joint of big toe (podagra). Tophus
formation (often on external ear, olecranon bursa, or Achilles tendon).
Acute attack tends to occur after a large meal with foods rich in purines
(eg, red meat, seafood), trauma, surgery, dehydration, diuresis, or
alcohol consumption .
*
Pseudogout (Calcium Pyrophosphate deposition disease ) : Pain and
swelling with acute inflammation (pseudogout) and/or chronic
degeneration (pseudo-osteoarthritis). Knee most commonly affected
joint.
**
Systemic lupus erthymatosis :
1. Fever and weight loss
2. Malar 'butterfly' rash , especially upon exposure to sunlight (
Photosensitivity )
3. Arthritis
4. Pleuritis and pericarditis (involvement of serosal surfaces)
5. Neurologic disorders (eg, seizures, psychosis)
6. Renal damage-Diffuse proliferative glomerulonephritis is the most
common
injury, though other patterns of injury also occur.
7. Endocarditis, myocarditis, or pericarditis (can affect any layer of the
heart)
i. Libman-Sacks endocarditis is a classic finding and is characterized by
small, sterile deposits on both sides of the mitral valve.
8. Anemia, thrombocytopenia, or leukopenia (due to autoantibodies
against cell surface proteins)
9. Renal failure and infection are common causes of death.
10. Oral/nasopharyngeal ulcers
*
*
Libman-sacks enocarditis : nonbacterial, verrucous thrombi usually on
mitral or aortic valve and can be present on either surface of the valve
*
Lupus nephritis : (glomerular deposition of anti- DNA immune
complexes) can be nephritic or nephrotic (hematuria or proteinuria).
Most common and severe type is diffuse proliferative.
*
Antiphospholipid syndrome : Diagnose based on clinical criteria
including : history of thrombosis (arterial or venous) or spontaneous
abortion along with laboratory findings of lupus anticoagulant,
anticardiolipin, anti-2 glycoprotein antibodies .
*
Sarcoidosis : widespread noncaseating granulomas , Often
asymptomatic except for enlarged lymph nodes. Associated with
restrictive lung disease (interstitial fibrosis), erythema nodosum, lupus
pernio (skin lesions on face resembling lupus), Bell palsy, epithelioid
granulomas containing microscopic Schaumann and asteroid bodies,
uveitis, hypercalcemia (due to 1-hydroxylasemediated vitamin D
activation in macrophages) .
*
Polimyalgia rheumatic : Pain and stiffness in shoulders and hips, often
with fever, malaise, weight loss. Does not cause muscular weakness.
*
Fibromyalgia : Most commonly seen in women 2050 years old.
Chronic, widespread musculoskeletal pain associated with tender
points, stiffness, paresthesias, poor sleep, fatigue, cognitive
disturbance (fibro fog) .
*
Skeletal muscle
Dermatomyositis : Similar to polymyositis, but also involves malar rash
(similar to SLE), Gottron papules , heliotrope (erythematous periorbital)
rash , shawl and face rash , mechanics hands. risk of occult
malignancy .
*
Polymyositis : Progressive symmetric proximal muscle weakness,
characterized by endomysial inflammation with CD8+ T cells. Most
often involves shoulders.
*
X linked muscular dystrophy :
Duschene : Weakness begins in pelvic girdle muscles and progresses
superiorly. Pseudohypertrophy of calf muscles due to fibrofatty
replacement of muscle . Waddling Gait . Dilated cardiomyopathy or
respiratory failure is common cause of death.
Becker : less severe than duschene .
*
Neuromuscular junction diseases
Myasthenia gravis : Ptosis, diplopia, weakness Worsens with muscle
use Improvement after edrophonium (tensilon) test .
*
Lambert-eaton myasthenia syndrome : Proximal muscle weakness,
autonomic symptoms (dry mouth, impotence)
Improves with muscle use .
*
Myositis ossificans
Scleroderma ( systemic sclerosis ) : Proximal muscle weakness,
autonomic symptoms (dry mouth, impotence)
Improves with muscle use . 2 major subtypes :
Diffuse sclerodermawidespread skin involvement, rapid
progression, early visceral involvement. Associated with anti-Scl-70
antibody (anti-DNA topoisomerase I antibody).
Limited sclerodermalimited skin involvement confined to fingers and
face. Also with
CREST syndrome: Calcinosis C , anti-Centromere antibody, Raynaud
phenomenon,
Esophageal dysmotility, Sclerodactyly, and Telangiectasia. More benign
clinical course.
*
Soft tissue tumors :
Lipoma
Liposarcoma
Rhabdomyoma
Rhabdomyoma
Rhabbdomyosarcoma
**

Skin pathlogy
Common conditions
Atopic eczematous dermatitis : Pruritic eruption, commonly on skin
flexures. Often associated with other atopic diseases (asthma, allergic
rhinitis, food allergies) .
*
Contact dermatitis : Type IV hypersensitivity reaction that follows
exposure to allergen. Lesions occur at site of contact .
*
Urticaria : Hives. Pruritic wheals that form after mast cell
degranulation. Characterized by superficial dermal edema and
lymphatic channel dilation.
*
Acne vulgaris : Comedones (whiteheads and blackheads), pustules
(pimples), and nodules .
*
Verrucea : Warts; caused by HPV. Soft, tan-colored, cauliflower-like
papules . Epidermal hyperplasia, hyperkeratosis, koilocytosis.
Condyloma acuminatum on genitals .
*
Psoriasis : Papules and plaques with silvery scaling , especially on knees
and elbows. pinpoint bleeding spots from exposure of dermal papillae
when scales are scraped off. Can be associated with nail pitting and
psoriatic arthritis.
*
Rosacea : Inflammatory facial skin disorder characterized by
erythematous papules and pustules , but no comedones . May be
associated with facial flushing in response to external stimuli (eg,
alcohol, heat). Phymatous rosacea can cause rhinophyma (bulbous
deformation of nose).
*
Pityriasis rosea : Herald patch followed days later by other scaly
erythematous plaques, often in a Christmas tree distribution on
trunk . Multiple plaques with collarette scale. Self-resolving in 68
weeks.
*
Pseudofolliculitis Barbae : Foreign body inflammatory facial skin
disorder characterized by firm, hyperpigmented papules and pustules
that are painful and pruritic. Located on cheeks, jawline, and neck .
*
Sunburn : Acute cutaneous inflammatory reaction due to excessive UV
irradiation.
*
Melanocytic nevus : Common mole. Benign, but melanoma can arise in
congenital or atypical moles. Intradermal nevi are papular . Junctional
nevi are flat macules .
*
Erythema nodosum : Painful, raised inflammatory lesions of
subcutaneous fat (panniculitis), usually on anterior shins.
*
Seborrheic keratosis : Flat, greasy, pigmented squamous epithelial
proliferation with keratin-filled cysts (horn cysts).
Looks stuck on. Lesions occur on head, trunk, and extremities . Leser-
Trlat signsudden appearance of multiple seborrheic keratoses,
indicating an underlying malignancy (eg, GI, lymphoid).
*
Actinic keratosis : Premalignant lesions caused by sun exposure. Small,
rough, erythematous or brownish papules or plaques .
*
Acanthosis nigricans : Epidermal hyperplasia causing symmetric,
hyperpigmented thickening of skin, especially in axilla or on neck .
Associated with insulin resistance (eg, diabetes, obesity, Cushing
syndrome), visceral malignancy (eg, gastric adenocarcinoma).
*
Lichen planus : Pruritic, Purple, Polygonal Planar Papules and Plaques
are the 6 Ps of lichen Planus
**
Blistering dermatomes
Pemphigus vulgaris : Flaccid intraepidermal bullae caused by
acantholysis (separation of keratinocytes, resembling a row of
tombstones); oral mucosa is also involved .
*
Bullous pemphygoid : Tense blisters containing eosinophils affect skin
but spare oral mucosa.
*
Dermatitis herpetiformis : Pruritic papules, vesicles, and bullae (often
found on elbows) .
*
Steven Johnson synd : Presents with multiple types of lesions
macules, papules, vesicles, target lesions (look like targets with
multiple rings and dusky center showing
epithelial disruption) .
*
Erythema multiforme : Presents with multiple types of lesions
macules, papules, vesicles, target lesions (look like targets with
multiple rings and dusky center showing epithelial disruption) .
*
Stevens-Johnson syndrome : Characterized by fever, bullae formation
and necrosis, sloughing of skin at dermal-epidermal junction, high
mortality rate. Typically 2 mucous membranes are involved , and
targetoid skin lesions may appear, as seen in erythema multiforme.
**
Epithelial tumors :
Seborrheic keratosis : mentioned before .
*
Acanthosis nigricans : mentioned before .
*
Basal cell carcinoma : Waxy, pink, pearly nodules, commonly with
telangiectasias, rolled borders, central crusting or ulceration . BCCs also
appear as nonhealing ulcers with infiltrating growth or as a scaling
plaque (superficial BCC)
*
Squamous cell carcinoma : Commonly appears on face , lower lip ,
ears, hands. Locally invasive, may spread to lymph nodes, and will
rarely metastasize. Ulcerative red lesions with frequent scale.
Keratoacanthoma is a variant that grows rapidly (46 weeks) and may
regress spontaneously over months .
*
Melanoma : Asymmetry, Border irregularity, Color variation, Diameter
> 6 mm, and Evolution over time. At least 4 different types of
melanoma, including superficial spreading , nodular , lentigo maligna,
and acral lentiginous .
**
Disorders of pigmentation and melanocytes :
Vitiligo : Localized loss of skin pigmentation .
Albinism : Congenital lack of pigmentation , May involve the eyes
(ocular form) or both the eyes and skin (oculocutaneous form) .
Freckle : Small, tan to brown macule; darkens when exposed to
sunlight .
Melasma ( chloasma ) : Mask-like hyperpigmentation of the cheeks .
Nevus : a flat macule or raised papule with symmetry, sharp borders ,
evenly distributed color, and small diameter(< 6 mm)
Melanoma : mentioned before .
a: superficial spreading
b: lentigomaligna melanoma
c : nodular
d : acral lentiginous
**
Infectous disorders :
Impetigo : Very superficial skin infection , Highly contagious.
Honeycolored crusting . Bullous impetigo has bullae and is usually
caused by S aureus.
*
Erysipelas : Infection involving upper dermis and superficial lymphatics
, Presents with well-defined demarcation between infected and normal
skin .
*
Cellulitis : Acute, painful, spreading infection of deeper dermis and
subcutaneous tissues.
*
Abscess : Collection of pus from a walled-off infection within deeper
layers of skin.
*
Necrotizing fasciitis : Deeper tissue injury, usually from anaerobic
bacteria or S pyogenes. Pain may be out of proportion to exam
findings. Results in crepitus from methane and CO2 production. Flesh-
eating bacteria.
Causes bullae and a purple color to the skin .
*
Staphylococcal scalded skin syndrome : Characterized by fever and
generalized erythematous rash with sloughing of the upper layers of
the epidermis that heals completely .
*
Herpes : include herpes labialis, herpes genitalis, herpetic whitlow
(finger).
*
Molluscum contagiosum : Umbilicated papules caused by a poxvirus.
*
Varicella zoster : Causes varicella (chickenpox) and zoster (shingles).
Varicella presents with multiple crops of
lesions in various stages from vesicles to crusts. Zoster is a reactivation
of the virus in dermatomal distribution (unless it is disseminated).
*
Verruca : mentioned before .
*
Hairy leukoplakia : Irregular, white, painless plaques on lateral tongue
that cannot be scraped off .
**
.

S-ar putea să vă placă și