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kamel hassan
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MCQs PEDIATRICS
MCQs
PEDIATRICS
Prepared by
Dr.Kamel Hassan MD
C.E.S de Pediatrie, C.P.B in Pediatrics
Palestine – Gaza
E-mail: kyh10557@yahoo.com
1- DEVELOPMENT
1-Theme : STATURE
A. Achondroplasia
B. Anorexia nervosa
C. Constitutional delay
D. Cornelia-de-Lange syndrome
E. Familial short stature
F. Growth hormone deficiency
G. Primordial dwarfism
H. Psychosocial poor growth
I. Prader-Willi syndrome
J. Russell-silver dwarfism
Select the most appropriate diagnosis from the above options to explain the
following presentations:
1) A child has short stature, a triangular face and facial and limb length
asymmetry.
J. Russell-silver dwarfism
Note:
describes a child with Russell –silver syndrome. A condition of short stature,
hemi-hypertrophy and the child often has triangular facies, frontal bossing and
clinodactyly of the 5th finger.
2) A child has short stature and is noted to have a large head with a prominent
forehead.
A. Achondroplasia
Note:
describes a child with achondroplasia. Short stature, rhizomelia (short limbs
especially the proximal part). Affected individuals usually have a large head with
hydrocephalus being a complication.
3) A baby is born on the 50th centile for height and weight. By the age of 2 her
length has fallen to the 2nd centile and weight remains on the 50th. She has a
rounded face with small hands and feet.
F. Growth hormone deficiency
Note:
describes a growth hormone deficient child. Early recognition and initiation of
treatment is required to reach satisfactory adult height.
2-Theme : STATURE
A. Achondroplasia
B. Anorexia nervosa
C. Constitutional delay
D. Cornelia-de-Lange syndrome
E. Familial short stature
F. Growth hormone deficiency
G. Primordial dwarfism
H. Psychosocial poor growth
I. Prader-Willi syndrome
J. Russell-silver dwarfism
Select the most appropriate diagnosis from the above options to explain the
following presentations:
1) A 9 year old boy statemented for special educational needs is investigated for
short stature. He has a weight over the 91st centile. He is noted to have small
hands and feet and hypogonadism.
I. Prader-Willi syndrome
Note:
describes a child with Prader-Willi syndrome. A condition characterised by obesity after the
first year of life. Hypotonia, hypogonadism and learning difficulties due to a deletion of
chromosome 15 (the deletion occurring in the paternal gene, if the deletion of chromosome 15
in the child was inherited from the mother the child would have the phenotype of Angelman's
syndrome).
2) A 15 year old girl in foster care is referred to outpatients because of delayed
puberty. On examination her weight is on the 2nd centile and her height is on the
25th centile. She has poor dentition and her temperature is measured at 35°C.
B. Anorexia nervosa
Note:
describes an adolescent girl with anorexia nervosa. A condition due to fear of becoming
obese or disturbed body image. There is usually a tendency to deny hunger, excessive
dieting, laxative abuse or excessive physical activity. The diagnosis is classified as weight of
15% below that expected for age and height and is associated with physical characteristics
including amenorrhoea, bradycardia, hypothermia and electrolyte disturbances.
3) A 7 year old girl presents with short stature with weight being on the 9th
centile and height less than 0.4th centile. Examination is normal as well as all
investigations including a bone age, which is compatible with her chronological
age. Her mother is 5”1 (134cm), her father is 5”5 (143cm).
E. Familial short stature
Note:
describes a child with familial short stature. From the measurements of the
parents the child's height is compatible with this diagnosis. It is expected that
most children will reach a height within 8cms of the mid-parental height centile.
2- CARDIOLOGY
1-Theme : EMERGENCY MEDICINE
A. Adenosine
B. Adrenaline
C. Atropine
D. DC shock
E. Dobutamine
F. Diving reflex
G. Endotracheal intubation
H. Intraosseous line
I. IV Morphine
J. Naloxone
Select the most appropriate emergency treatment for the following children:
1) A 4-year-old child is rescued from a house fire. She is admitted tachypnoeic
and tacchycardic. She has soot in her nostrils.
G. Endotracheal intubation
Note:
Item 1 relates to burns. Most deaths following house fires occur secondary to
smoke inhalation. Amongst the indicators of inhaled smoke injury is deposits
around the mouth and nose. Oedema follows thermal injury and therefore any
suspicion of airway compromise should result in endotracheal intubation.
2) Coarctation of Aorta
I. Turner's syndrome
Note:
Turner's syndrome This is characterized by 45, X genotype, ovarian
dysgenesis leading to infertility, short stature, webbing of the neck, wide carrying
angles and wide spaced nipples. However they have normal intellectual
development.
Comments:
Charcot-Marie-Tooth syndrome Autosomal dominant peroneal muscular
dystrophy.
3) Pulmonary stenosis.
H. Noonan's syndrome
Note:
In Noonan's syndrome pulmonary valve stenosis due to a dysplastic or thick
valve is seen often associated with left ventricular hypertrophy. Branch stenosis
of the pulmonary artery also is found in Noonan's syndrome.
3) Septal defects.
E. Foetal alcohol syndrome
Note:
In foetal alcohol syndrome individuals have poor growth, developmental delay
and usually characteristic facial features including microcephaly and a short
smooth philtrum. The most common cardiac lesion in these children are septal
defects primarily ventricular septal defects.
6-Theme : BREATHLESSNESS
A. Asthma
B. Hyperventilation
C. Tuberculosis
D. Cystic Fibrosis
E. Pneumocystis carinii
F. Ventricular septal defect
G. Gastroesophageal reflux
H. Atrial septal defect
I. Bronchiolitis
J. Mitral stenosis
For each of these patients with breathlessness, select the most likely diagnosis
1) A thirteen-year-old girl who has intermittent episodes of breathlessness,
which tend to occur in crowded shops. She feels the need to take deep breaths
and then breathes very quickly, complaining of pins & needles around her mouth
and in her hands. Her chest is clear and her blood gases show a normal pO2
and low pCO2.
B. Hyperventilation
Note:
This description is one of anxiety. The blood gas picture is one of
hyperventilation.
2) A three-year-old boy who presents with worsening cough and breathlessness of 3 weeks’
duration. His mother was an intravenous drug abuser. He has always been prone to
infections. When he was 2 years old he had chicken pox for 4 weeks. On examination, he has
an emaciated appearance, his weight is below the 0.4th centile, he has a temperature of
37.6°C and he has generalized crepitations on auscultation of his chest. A blood count shows
severe lymphopenia.
E. Pneumocystis carinii
Note:
This has resulted from congenitally acquired HIV. PCP has an insidious onset
and often there are no chest signs in children. Lymphopenia is consistent.
Treatment is with septrin or nebulised pentamidine as second line.
3) A 4-month-old baby has not gained much weight since birth and only takes
small milk feeds, as he appears to become breathless on feeding. He is
tachypnoeic, sweaty and has a tachycardia. His liver is enlarged and he has a
harsh grade 2-pansystolic murmur at the left lower sternal edge
F. Ventricular septal defect
Note:
Poor feeding is a symptom of heart failure in babies. A VSD has a pan systolic murmur and if
large may have a lower grade as there is less resistance to flow. Hepatomegaly is an early
sign of heart failure in infants.
Which of the above is the most likely diagnosis in the following cases.
1) A 13-year-old girl is referred for evaluation of her short stature. She is
prepubertal. On auscultation she has an ejection systolic murmur in the second
and third left intercostals spaces radiating to the back, but is a symptomatic.
G. Pulmonary valve stenosis
Note:
The murmur describes pulmonary stenosis, which could also be a left peripheral
pulmonary stenosis. She is short and has delayed puberty and coupled with the
cardiac findings would suggest Noonan’s syndrome.
3) An infant is seen for his 6-week check and found to have a loud ejection
systolic murmur in the third left intercostal space and a single second heart
sound on examination. There is no obvious cyanosis but a suggestion of mild
desaturation. On the chest X ray there is a concavity on the left heart border and
decreased pulmonary vascular markings.
I. Tetralogy of Fallot
Note:
Tetralogy of Fallot may present later than in the neonatal period. The ejection
systolic murmur is from the infundibular stenosis. The desaturation results from
the right to left shunt across the VSD.
3- DERMATOLOGY
1-Theme : SKIN AND HAIR ABNORMALITIES
A. Alopecia areata
B. Dermatitis artefacta
C. Trichotillomania
D. Aplasia cutis
E. Sutural alopecia
F. Ectodermal dysplasia
G. Acrodermatitis enteropathica
H. Menkes Kinky hair
I. Trichorrhexis nodosa
J. Telogen Effluvium
Select one option from the list above that is most suitable for the following
patients
1) A genetic syndrome resulting in abnormal dentition and ichthyosis
F. Ectodermal dysplasia
Note:
Ectodermal dysplasia is an X linked recessive condition with features of
alopecia, hypodontia and a defect in sweating. These individuals have
characteristic facies.
2) A 15 year old girl with a history of emotional difficulties presents with linear
markings to her forearms and an inconsistent history.
B. Dermatitis artefacta
Note:
Dermatitis artefacta, skin lesions are deliberately produced by patients who
conceal this fact from their doctors. The condition is usually found in individuals
with emotional difficulties arising from a disorder of personality.
3) A congenital diffuse cause of hair loss due to an abnormality of the hair shaft
with a child with intractable seizures.
H. Menkes Kinky hair
Note:
Menkes, kinky hair syndrome is a progressive cerebral deterioration associated
with seizures and twisted fractured hair. It is X linked recessive and the
underlying aetiology is an abnormality of Copper transport resulting in low
Copper and low Caeruloplasmin.
3) Coeliac disease
D. Dermatitis Herpetiformis
Note:
Dermatitis herpetiformis is a pruritic fascicular rash found on elbows, shoulder,
buttocks and knees and is associated with Coeliac disease.
2) Dermatomyositis
F. Gottron's papules
Note:
Gottron's papules are pathognomonic for Dermatomyositis. They are
inflammatory papules found over the dorsal interphalangeal joints and they
become violaceous in colour and flattened before they atrophy to leave.
3) Stevens-Johnson syndrome
B. Erythema Multiforme
Note:
Hypopigmentation – Erythema multiforme major is also known as Stevens-
Johnson syndrome. It is a serious systemic disease which involve the two
mucous membranes plus skin. Often follows respiratory symptoms and is
associated with a conjunctivitis, uveitis and bullae. It may result in fluid loss,
weakness as well as anaemia and neutropenia.
4- GENETICS
1-Theme : DIAGNOSIS OF CHROMOSOMAL DISORDERS
A. Di -George Anomaly
B. Fragile X
C. Karyotype 45XO
D. Karyotype 46XX
E. Karyotype 47XYY
F. Klinefelter syndrome
G. Triploidy
H. Trisomy 9
I. Trisomy 18
J. Trisomy 21
For each of the following descriptions of clinical abnormalities choose the single
most likely genetic disorder from the list of options
1) A 13 year old boy with learning difficulties, undescended testicles and
gynaecomastia.
F. Klinefelter syndrome
Note:
Klinefelter syndrome (XXY). Individuals with Klinefelter’s usually have learning
difficulties. Phenotypically they are relatively tall and slim individuals with small
penis and testicles, gynaecomastia and infertility.
2) Gross foetal oedema, a cystic hygroma and ultrasound appearances of
female foetus.
C. Karyotype 45XO
Note:
Turner’s syndrome (45XO) affects females. Features include short stature and gonadal
agenesis. Ultrasound scan of the foetus in the utero may confirm lymphoedema. Other
features include a webbed neck, a broad shield like chest, wide spaced nipples and cubitus
valgus. Cardiac anomalies are common in Turner’s syndrome the most common being a
bicuspid aortic valve and coaptation of the aorta. Renal anomalies such as horse shoe
kidneys are often seen
3) A cardiac abnormality in a child with immuno deficiency and mild – moderate
learning difficulties
A. Di -George Anomaly
Note:
Di -George syndrome, which is a defect of development of the thymus, parathyroid as well as
great vessels. They tend to have characteristic facies with short palpable fissures,
micrognathia and a short philtrum. They have reduced cellular immunity and
hypoparathyroidism leads to hypocalcaemia and seizures. Cardiac anomalies are also
common for example aortic arch defects.
5- INFECTIOUS DISEASES
1) DIARRHOEA
A. Coeliac disease
B. Crohns disease
C. Ulcerative colitis
D. Cows milk protein intolerance
E. Toddlers diarrhoea
F. Cystic fibrosis
G. Lactose intolerance
H. Irritable bowel syndrome
I. Abdominal migraine
J. Haemolytic uraemic syndrome
For the following children presenting with diarrhoea which is the most likely
diagnosis:
1) An 11 month infant presents with chronic diarrhoea and failure to thrive since
breast feeding was discontinued at 9 months. He has been treated by his GP
with antibiotics on two occasions for chest infections. Initial investigations reveal
low serum potassium, chloride and metabolic alkalosis.
F. Cystic fibrosis
Note:
Failure to thrive, chest infections and diarrhoea (the latter results from failure of pancreatic
exocrine function) are indicative of CF. The abnormal biochemistry is caused by salt loss and
may be described as pseudo-bartters syndrome
2) A 15 year old boy presents with delayed puberty and short stature. He gives a
history of intermittent abdominal pain and diarrhoea. He recently presented to
his family doctor with a painful red swelling on his shin which has now resolved.
B. Crohns disease
Note:
Crohn’s disease may present in this way, the skin lesions are erythema
nodosum which are associated with inflammatory bowel disease.
3) A 8 month old infant has recurrent diarrhoea. Mother dates the start of
symptoms from the an episode of gastroenteritis. The diarrhoea is explosive in
nature
G. Lactose intolerance
Note:
Secondary lactose intolerance is a known sequelae of viral gastroenteritis. It is
not prevented by regrading milk following the episode of viral infection.
Dr.Kamel Youssef Hassan, Pediatrician Consultant , Palestine - Gaza
E-mail: kyh10557@yahoo.com 22
MCQs PEDIATRICS
2) CONTRA-INDICATIONS TO VACCINES
A. BCG
B. Diphtheria Tetanus Polio
C. Hepatitis B
D. Haemophilus Influenzae B
E. Influenza
F. Measles Mumps Rubella
G. Polio
H. Rubella
I. Tetanus
J. Tuberculin
Which of the vaccines listed above would be contra-indicated in the following
scenarios:
1) Contra-indication if known to have a hypersensitive reaction to egg.
E. Influenza
Note:
relates to hypersensitivity to egg, which contra-indicates the Influenza vaccine
as there is residual egg protein present.
2) Contra-indication if known to have an allergy to gelatin.
F. Measles Mumps Rubella
Note:
refers to contra-indications to MMR, which include children with allergies to
Gelatin, Neomycin or kanamycin as well as children with untreated malignant
disease or altered immunity. Those receiving immuno-suppressive drugs or
radiotherapy are also contraindicated. Children who have received another live
vaccine by injection within 3 weeks should not be given MMR vaccine. MMR
should also not be given within 3 months of receiving an Immunoglobulin
injection.
3) Contra-indication if known to have an allergy to kanamycin.
F. Measles Mumps Rubella
Note:
refers to contra-indications to MMR, which include children with allergies to
Gelatin, Neomycin or kanamycin as well as children with untreated malignant
disease or altered immunity. Those receiving immuno-suppressive drugs or
radiotherapy are also contraindicated. Children who have received another live
vaccine by injection within 3 weeks should not be given MMR vaccine. MMR
should also not be given within 3 months of receiving an Immunoglobulin
injection.
4) CHILDHOOD DIARRHOEA
A. Adenovirus
B. Cytomegalovirus
C. Epstein-Barr virus
D. E. Coli
E. Giardia Lamblia
F. Hepatitis A
G. Norwalk virus
H. Rotavirus
I. Salmonella species
J. Staphylococcus aureus
Select one option from the list above that is most suitable for the following
patients
1) Accepted as the most common cause of infectious diarrhoea in children in the
developed society.
H. Rotavirus
Note:
Rotavirus is the most common virus responsible for diarrhoea worldwide. It is a
double stranded RNA virus, especially prevalent in the winter months. It causes
fever and watery diarrhoea.
3) A 5 year old girl presents with puffiness around the eyes. Urinalysis confirms
proteinuria with a trace of blood.
C. Nephrotic syndrome
Note:
relates to a child with Nephrotic syndrome. This occurs when there is proteinuria resulting in
hypoalbuminaemia and oedema with an unknown aetiology. Peri-orbital or dependant
oedema is usually noted first. There may also be a history of abdominal pain, vomiting and
diarrhoea. The child needs to be monitored carefully as hypovolaemia and circulatory
collapse. Steroids are the treatment of choice with careful management of fluids.
6) NEONATAL JAUNDICE
A. Physiological jaundice
B. Biliary atresia
C. Hypothyroidism
D. Rhesus incompatibility
E. Congenital spherocytosis
F. Congenital cytomegalo virus infection
G. Galactosaemia
H. Glucose-6-phosphate dehydrogenase deficiency
I. Cystic fibrosis
J. Fructose intolerance
For each of the following jaundiced babies, select the most likely cause:
1) A 13 day old infant who was noted to have an umbilical hernia and has very
dry skin presents with jaundice. She is a floppy baby. Her bilirubin is checked
and is found to be elevated and mainly unconjugated. The community midwife
has been unable to gain access to the home for the last week.
C. Hypothyroidism
Note:
Umbilical hernia, dry skin, hypotonia and jaundice are features of congenital
hypothyroidism.
2) A caucasian infant has required surgery at the regional neonatal unit for meconium ileus
and has developed jaundice. The serum conjugated bilirubin is 65 micromol/L. The diagnosis
is eventually confirmed from the neonatal screening tests.
I. Cystic fibrosis
Note:
Meconium ileus and jaundice may be presenting features of CF in the neonatal
period. The screening test is immunoreactive trypsin.
3) A 12 day old male baby has a conjugated and unconjugated hyperbilirubinaemia. He is
breast fed and has become more disinterested in feeds. He was investigated for sepsis and
blood cultures demonstrated E-coli septicaemia, urine cultures were clear. His clotting is
deranged.
G. Galactosaemia
Note:
Galactosaemia typically presents around 2 weeks of age with jaundice. E coli
septicaemia is a feature. Treatment is by removing galactose from the diet.
Cataracts are a later feature even if treatment instituted early.
7) VIRAL INFECTIONS
A. Measles
B. Rubella
C. Chicken Pox
D. Herpes Simplex
E. Mumps
F. Glandular fever
G. Pertussis
H. Polio myelitis
I. Hepatitis A
For each description below choose the single most likely viral infection from the
list of options.
1) May result in Giant cell pneumonia.
A. Measles
Note:
Measles infection is uncommon due to world-wide immunisation. A child with
measles usually has a fever, upper respiratory tract symptoms and a
morbilliform rash. Serious complications include a giant cell pneumonia and
encephalitis (SSPE).
2) A 14 year old boy with a history of recurrent urinary tract infections present
with severe abdominal pain radiating to his back. Dysuria and haematuria.
F. Renal Calculi
Note:
relates to Urolithiasis, Renal Calculi. Children present with abdominal pain,
voiding abnormalities, dysuria, haematuria may be present. Avoidance of
dehydration is important. Treatment may require lithotripsy.
3) A 1 year old girl with a 3 month history of vomiting is investigated for failure to
thrive. She is found to be mildly acidotic.
G. Renal tubular acidosis
Note:
Renal tubular acidosis is the answer to Item 3. It is a clinical state of systemic
hyperchloraemic acidosis resulting from impaired urinary acidification. Three types exist. Type
1 distal RTA, type 2 proximal RTA and type 4 mineralocorticoid deficiency. Type 3 is thought
to be a variant of type 1. Types 1, 2 and 4 each have several causes. Children with isolated
forms of proximal or distal commonly present with growth failure; gastrointestinal symptoms
are also common. Nephro-calcinosis and hypercalciuria may complicate distal RTA and goals
of treatment are to correct the acidosis and to maintain normal Bicarbonate and Potassium
levels.
3) A boy has an itchy rash over the trunk with a solitary large oval lesion on the
back.
E. Pityriasis rosea
Note:
Pityriasis rosea is a benign condition of the skin resulting in oval pink / brown
scaly lesions over the trunk, which are usually preceded by a herald patch (a
solitary large lesion usually between 1 –10cm). No treatment is required.
2) A 1 year old baby boy is wheezy, coughing, cyanosed and breathless with
intercostal recession.
B. Bronchiolitis
Note:
Acute bronchiolitis is very common in infancy. In winter epidemics of respiratory
syncytial virus infection are the commonest cause. Wheeze, cough, fever and
respiratory distress are common. Chest X ray shows hyperinflation.
3) A 4 year old non immunized boy presents with bouts of coughing ending in
vomiting. He has an absolute lymphocytosis.
J. Whooping cough
Note:
Whooping cough is caused by Bordetella pertussis infection. Bouts of coughing
ending in vomiting, especially at night and after feeding suggest the diagnosis.
The characteristic whoop, forced inspiration through a closed glottis may or may
4) A nine month old baby girl is upset and has stridor. Her voice is hoarse and
has a barking cough. She has a low grade fever.
C. Croup
Note:
Croup usually occurs in epidemics in autumn or spring. Causative viruses are
Parainfluenza (types 1, 2, or 3), respiratory syncytial viruses and measles virus.
Onset is over a few days; stridor is harsh and occurs only when child is upset. A
barking cough, harsh voice and ability to swallow secretions are typical.
5) A 2 year old boy is very unwell. His temperature is 39°C and he is unable to
swallow his secretions.
F. Epiglottis
Note:
Acute epiglottis is due to Haemophilus influenza type B infection. It is
characterised by sudden onset, high fever, continuous stridor and drooling of
secretions. Intravenous antibiotics, anaesthetic support are usually indicated.
12) EXANTHEM
A. Staphylococcal scalded skin syndrome
B. Rubella
C. Measles
D. Kawasaki’s disease
E. Impetigo
F. Scarlatina
G. Infectious mononucleosis
H. Henoch – Schonlein purpura
I. Meningococcal infection
J. Stills disease (systemic onset juvenile chronic arthritis)
Match the following descriptions of rash with the illness for which they are the
most typical exanthem
1) A 5 year old boy has a bright, red, punctate, erythematous rash which
blanches on pressure, beginning in the axillae with some perioral pallor and
relative facial sparing. The skin feels like “sandpaper”. The rash fades and
desquamates on the hands and feet. A thick white exudate develops on the
tongue which peels leaving a “strawberry tongue” with prominent papillae.
F. Scarlatina(scarlet fever)
Note:
This description is typical of Scarlatina i.e. beta haemolytic streptococcal
infection. The rash may be confused with that of Kawasaki disease. However,
desquamation occurs in late in Kawasaki’s disease.
2) A maculopapular rash develops in a child with sore throat and fever who has
been treated with ampicillin.
G. Infectious mononucleosis
Note:
This is a known effect of giving ampicillin during EBV infection.
3) A 3 year old child presents with high fever for 7 days, conjunctival injection,
fissuring of the lips and strawberry tongue, erythema followed by desquamation
of the hands and feet, and a macular rash over the trunk with cervical
lymphadenopathy.
D. Kawasaki’s disease
Note:
There are major and minor features of Kawasaki disease. High fever and
desquamation are typical.
14) RASHES
A. Staphylococcal scalded skin syndrome
B. Rubella
C. Measles
D. Kawasaki’s disease
E. Impetigo
F. Scarlatina
G. Infectious mononucleosis
H. Henoch – Schonlein purpura
I. Meningococcal infection
J. Stills disease (systemic onset juvenile chronic arthritis)
Match the following descriptions of rash with the illness for which they are the
most typical exanthem.
1) A salmon-coloured, reticulate macular rash develops mainly over the extensor
surfaces of the limbs in a 5 year old boy with swinging temperature; hot, swollen,
painful knees and left elbow and palpable spleen. The ESR is 95. The blood
count, C-reactive protein and chest X-ray are normal.
J. Stills disease (systemic onset juvenile chronic arthritis)
Note:
“Salmon-coloured” is the description used to describe the rash of Still’s disease.
The distribution is not that of HSP which covers typically the buttocks and limbs
and is a purpuric rash.
2) A 12 year old boy develops petechiae and papules, some of which become
purpuric over his buttocks and legs, associated with painful swollen knees.
There is microscopic haematuria on testing. The platelet count is normal.
H. Henoch – Schonlein purpura
Note:
This is a description of HSP and the well recognised complication of HSP
nephritis. A proportion of these patients will develop progressive nephritis and
end stage renal failure.
3) A 5 day old girl has a high temperature and is irritable. She has areas of desquamation
over her finger tips and in the axillae. Her carer notices that her skin blisters easily following
minimal contact.
A. Staphylococcal scalded skin syndrome
Note:
SSSS results from infection with staphylococci with the exofoliative toxin A and B. These
exotoxins cause disruption to the epidermal layer by interfering with intercellular junctions.
Mortality is up to 3% in children. A positive Nikolsky sign (slippage of the superficial layer of the
epithelium on gentle pressure) The desquamation occurs concomitantly with the illness unlike
Kawaskis disease and Kawasaki disease does not occur in this age group. There may be a
history of minimal skin trauma which provides a port of entry for the organism.
15) DIARRHOEA
A. Coeliac disease
B. Crohns disease
C. Ulcerative colitis
D. Cows milk protein intolerance
E. Toddlers diarrhoea
F. Cystic fibrosis
G. Lactose intolerance
H. Irritable bowel syndrome
I. Abdominal migraine
J. Haemolytic uraemic syndrome
For the following children presenting with diarrhoea which is the most likely
diagnosis:
1) A 6 year old boy with Downs’s syndrome has between 3 and 4 loose stools a
day. He is pale but otherwise the examination is unremarkable. When plotting
his growth on a chart specific for Downs syndrome children it is clear that both
height and weight have fallen across 2 centiles.
A. Coeliac disease
Note:
Coeliac disease is more occurs more frequently in Downs’s syndrome. To
screen, anti-TTG antibodies taken with serum IgA must be evaluated.
2) A 3 year old has intermittent diarrhoea with stools of varying consistency and
sometimes undigested food particles. His growth is satisfactory. His mother had
tried to reduce his intake of diary produce but dietary manipulation has had no
impact on the symptoms
E. Toddlers diarrhoea
Note:
Toddler diarrhoea (thought to be a normal variant) occurs mainly in preschool
children and is evidenced by undigested food observed in the faeces in a well
child. Poor growth would indicate a likely pathological cause.
3) A 4 month baby girl has severe atopic eczema and is regularly reviewed in the
paediatric clinic. She had now developed diarrhoea and her weight has been
static in recent weeks. A full blood count shows a slight eosinophilia.
D. Cows milk protein intolerance
Note:
CMPI is associated with eczema and eosinophilia. Cow’s milk should be
excluded from the diet and reintroduced between 1-2 years if tolerated. An
alternative milk source such as soy milk can be used until this is done.
2) A 6 year old girl presents with a one week history of febrile illness with sore
throat and headache. One day prior to hospital admission, the patient awoke
with pain and swelling in the right ankle. On examination, she has a warm
swollen right ankle and a systolic heart murmur, consistent with mitral
regurgitation.
S. Streptococcus pyogenes
B. Cytomegalovirus
4) A 7 year old male child is referred to hospital by the general practitioner with
acute renal failure. The child had bloody diarrhoea and a low grade fever a week
ago; both resolved with rehydration.
D. Escherichia coli
5) A 4 month old female infant is brought to the hospital with severe respiratory
distress. Five days previously, she had a cough and rhinitis. On examination her
temperature is 38.9 oC, pulse 180/min and the respiratory rate 80/min. She had
subcostal retractions and nasal flaring. On auscultation, there are rhonchi and
wheezes all over her chest.
M. Respiratory syncytial virus
Comments:
1. The diagnosis of Meningococcal meningitis is clear. 2. Rheumatic fever
results from immune-mediated post Group A streptococcal infection,
Streptococcus pyogenes being a common pathogen. 3. Congenital CMV
infection is associated with petechiae, choroidoretinitis, hepatosplenomegaly,
intracerebral calcification which may lead to CNS damage with long term
sequaelae. 4. E. coli infection has resulted in Haemolytic Uraemic Syndrome
with renal failure. 5. Respiratory Syncytial Virus is the commonest cause of
lower respiratory tract infections in children worldwide, and is the leading cause
of bronchiolitis and pneumonia in children.
3) An organism which is not only associated with gastroenteritis but is also the
most common cause of osteomyelitis and arthritis in children.
J. Staphylococcus aureus
Note:
Staphylococcus aureus is a gram positive coccus and the most common cause
of osteo-myelitis and arthritis in children. It may contaminate skin resulting in
impetigo, cellulitis, folliculitis and furunculosis. It may cause pneumonias and
may contaminate food resulting in enterotoxins being released in to the intestinal
tract.
2) A 1 year old baby boy is wheezy, coughing, cyanosed and breathless with
intercostal recession.
B. Bronchiolitis
Note:
Acute bronchiolitis is very common in infancy. In winter epidemics of respiratory
syncytial virus infection are the commonest cause. Wheeze, cough, fever and
respiratory distress are common. Chest X ray shows hyperinflation.
3) A 4 year old non immunized boy presents with bouts of coughing ending in
vomiting. He has an absolute lymphocytosis.
J. Whooping cough
Note:
Whooping cough is caused by Bordetella pertussis infection. bouts of coughing
ending in vomiting, especially at night and after feeding suggest the diagnosis.
The characteristic whoop, forced inspiration through a closed glottis may or may
4) A nine month old baby girl is upset and has stridor. Her voice is hoarse and
has a barking cough. She has a low grade fever.
C. Croup
Note:
Croup usually occurs in epidemics in autumn or spring. Causative viruses are
Parainfluenza (types 1, 2, or 3), respiratory syncytial viruses and measles virus.
Onset is over a few days; stridor is harsh and occurs only when child is upset. A
barking cough, harsh voice and ability to swallow secretions are typical.
5) A 2 year old boy is very unwell. His temperature is 39oC and he is unable to
swallow his secretions
F. Epiglottis
Note:
Acute epiglottis is due to Haemophilus influenza type B infection. It is
characterised by sudden onset, high fever, and continuous stridor and drooling
of secretions. Intravenous antibiotics, anaesthetic support are usually indicated.
3) A pre term neonate has multi-organ disease with granulomas on his skin. His
mother had a special liking for soft cheese during her pregnancy.
F. Listeriosis
Note:
Maternal listeriosis is usually a mild infection but transplacental infection and
premature labour may occur in about 5% of cases. Avoidance of partially cooked
meats, soft cheeses and unpasteurised milk should avoid this infection.
Treatment is with ampicillin and gentamicin. Neonatal infection is usually multi-
organ and granulomas may be found on the skin and the pharynx.
A. Chlamydia
B. Cytomegalovirus
C. Group B Streptococcus
D. Haemophilus Influenza
E. Mycoplasma pneumonia
F. Parainfluenza
G. Respiratory syncytial virus
H. Rhinovirus
I. Staphylococcus aureus
J. Ureaplasma
Select the most appropriate pathogen from the above list that would account for
the following presentations:
1) A 4 year old boy presents with a rapid history of high fever and drooling.
D. Haemophilus Influenza
2) A 4 year old girl presents with a 24 hour history of rhinitis, a barking cough
and hoarseness.
F. Parainfluenza
3) The commonest cause of pneumonia in the neonate.
C. Group B Streptococcus
Comments:
Item 1 describes a child with acute epiglottitis. This is a rare infection mainly
caused by Haemophilus influenza. Airway obstruction can develop rapidly due to
oedema around the epiglottis. Item 2 describe a child with croup. Acute
laryngotracheal bronchitis. It is almost exclusively viral in origin. Mainly
Parainfluenza. Streptococcus pneumonia is a common pathogen in the lung and
the commonest cause of pneumonia in the neonate.
2) A 5 year old girl with a high temperature presents with painful blisters on the
palms and soles of her feet
E. Coxsackie B
Note:
describes a child with hand foot and mouth, which is typically caused by Coxsackie B.
Characteristically individuals develop papules which then progress to vesicles. They are
painful and pruritic and typically affect acral areas. It is often associated with a high
temperature.
3) A 14 year old boy presents with fever, anorexia and loss of weight of 3
months duration. Scattered crepitations are heard over both lungs. Chest x-ray
is abnormal with generalised mottling.
J. Tuberculosis
Note:
TB- Mycobacterium Tuberculosis is a primary infection which may occur in the lung, gut or
skin. The local infection spreads to the surrounding lymph nodes, which constitutes the
primary complex in the lungs. Progression of the primary complex may result in
bronchopneumonia or bronchial obstruction secondary to enlargement of the lymph nodes.
Pleural effusions may also occur as well as cavitations. Primary TB may spread to the blood
stream resulting in TB. Examination may reveal hepatosplenomegaly and fundoscopy may
reveal choroid tubercles.
2) A 1 year old child presents with neck stiffness and a purpuric rash.
D. Benzylpenicillin
Note:
A child with meningococcaemia presented to the surgery and Benzylpenicillin
needs to be given urgently prior to transfer to hospital.
3) A 4 year old child presents with encephalopathy. The EEG shows high
amplitude, abnormal waveforms. The MRI scan is also abnormal. A diagnosis of
encephalitis is made.
B. Acyclovir plus Cefotaxime
Note:
A child with encephalitis. The majority of cases are secondary to viruses
although toxic and metabolic causes need to be considered. Of the viruses
Herpes simplex is the most common agent causing encephalitis. When
encephalitis is suspected both antibiotics and Acyclovir must be commenced
immediately.
2) Gianotti-Crosti.
I. Hepatitis B
Note:
Gianotti-Crosti is a syndrome of non-pruritic erythematous papules on the face,
buttocks and extremities. Characteristically related to Hepatitis B infection
although other viruses for example EBV may be associated.
3) Koplik spots.
G. Measles
Note:
Koplik spots are white coarse granules found on the buccal mucosa opposite the
back molars and is pathognomonic for measles.
3) A pre term neonate has multi-organ disease with granulomas on his skin. His
mother had a special liking for soft cheese during her pregnancy.
G. Listeriosis
Comments:
Rudimentary digits and limb hypopkasia suggest congenital chicken pox infection. The
presence of cataracts, cardiac abnormalities, thrombocytopaenia and cerebral calcification
suggest a diagnosis of Congenital rubella. The presence of Choroido-retinitis strongly
suggests a diagnosis of Toxoplasmosis. The baby born with granulomas and whose mother
has a penchant for soft cheeses suggests Listeria Monocytogenes infection. Chorio-retinitis
suggests The presence of Jaundice, HSM and microcephaly suggests CMV infection.
2) A two year old boy is mildly unwell. His mother has noticed vesicles in his
mouth, palms and soles of his feet.
B. Coxsackie
Note:
Coxsackie A16 virus is the cause of hand, foot and mouth disease characterized
by fever, sore throat and ulcerating vesicles in palms, orophaynx and on soles.
Incubation period is 5-7 days and these heal without crusting. Treatment is
symptomatic.
E. Measles
Note:
Measles is caused by and RNA paramyxovirus and occurs worldwide.
Outbreaks are common in areas with high numbers of non immunized children.
Infection is transmitted via respiratory droplets and incubation period is 10-21
days. The prodromal stage fever conjunctivitis, runny nose and coughing lasts
for five days. Koplik’s spots are bright red lesions with a central white dot which
appear on the buccal mucosa. These are virtually diagnostic. The typical
macular confluent rash appears on the face from day 3-5 and spreads to the rest
of the body. Diagnosis is made from clinical features, viral culture from lesions
and a grater than 4-fold rise in antibody titres. Otitis media, pneumonia,
meningitis and very rarely several years after primary infection subacute
sclerosing panencephalitis (SSPE).
4) A Ten year old girl develops an itchy rash on her body which is spreading to
her body. She traveled to see her grandmother who was unwell with a painful
rash three weeks ago.
J. Varicella
Note:
Varicella (Chicken pox) is transmitted by respiratory droplets and contact with
somebody with shingles. Incubation period is 14-21 days and following a brief
period of malaise, an itchy papulovesicular rash appears appears on trunk and
spreads to the head and the extremities. The rash evolves from papules to
vesicles, pustules and finally crusts. Antiviral therapy is reserved for systemic
disease in the immunocompromised.
5) The four month old baby daughter of an HIV positive mother is admitted to
hospital with seizures. She has neonatal jaundice and microcephaly.
C. Cytomegalovirus
Note:
Cytomegalovirus inclusion disease is the result of infection of the foetus. Many
organs may be affected and congenital abnormalities result. Microcephaly,
seizures, neonatal jaundice, hepatosplenomegaly, deafness and mental
retardation are some of the features that may occur.
2) Erythema marginatum
A. Rheumatic fever
Note:
Erythema marginatum is one of the five major criteria to make a diagnosis of
rheumatic fever. It is a pink rash with pale centres and a serpiginous margin,
found on the trunk and proximal limbs.
6- PEDIATRICS
1) Theme: ABDOMINAL PAIN
A. Peritonitis
B. Appendicitis
C. Constipation
D. Urinary tract infection
E. Mesenteric lymphadenitis
F. Migraine
G. Intussusception
H. Henoch-Schonlein vasculitis
I. Psychosomatic
J. Shigella dysentery
For the following patients with abdominal pain, choose the most likely diagnosis.
1) A previously well 10 month old baby presenting with drawing up of her legs
with crying and some bloody runny stools.
G. Intussusception
Note:
This is the right age group for intussception. It is often preceded by an URTI and
it is thought that mesenteric lymphadenopathy may precipitate intussception. A
red currant jelly-like stool is a late sign. In the older child, the cause of
intussception may be HSP or lymphoma.
2) A 4-year-old child, with poor eating habits, iron deficiency anaemia and
intermittent colicky abdominal pain.
C. Constipation
Note:
Constipation is common in children and should be managed aggressively to
establish regular bowel habit quickly.
3) A 2-year-old girl with nephrotic syndrome who has developed a fever and
abdominal pain.
A. Peritonitis
Note:
The causes of abdominal pain in nephrotic syndrome are peritonitis (usually
pneumococcal), renal vein thrombosis and hypovolaemia.
1) An 11 year old boy with learning difficulties has an acne type rash over the
nose
E. Adenoma sebaceum
Note:
relates to the condition known as Tuberous sclerosis. It is a condition where by
hamartomatous lesions become evident in early childhood. Seizures and
learning difficulties are common and skin manifestations include fibrous
angiomatous lesions in the naso labial folds known as adenoma sebaceum.
White macules are seen over the trunk known as Ash leaf macules and
Shagreen patches resemble goose like flesh. Subungual fibromata are also
common.
2) A 4 year old boy with a history of focal seizures and a birth mark
C. Port-wine stain
Note:
relates to Sturge-Weber syndrome. The association and localization of aberrant
vasculature in the facial skin, eyes and meninges. Most commonly in the
trigeminal nerve distribution.
3) Theme: Poisoning
A. Ant psychotics
B. Benzodiazepines
C. Ethylene glycol
D. Methanol
E. Opiates
F. Organophosphates
G. Salicylates
H. Sympathomimetic
I. Tricyclic antidepressants
J. Volatile solvents
Select the most appropriate agent from the above list that would elicit the
following toxic effects:
1) Coma, pinpoint pupils, hyperventilation
E. Opiates
Comments:
A pinpoint pupil suggests opiates (Heroin – Morphine – codeine). The hyper
salivation, tachypnoea and sweating suggest Organophosphate poisoning. This
drug inhibits ant-cholinesterase activity promoting Ach effects. Treatment
consists of anticholinergics (Atropine dose i.v 0.05 mg/kg repeated every 5-10
min as needed adverse effect tachycardia, dry mouth, blurred vision, and urinary
retention). Finally, the use of salicylates in children is well-recognized cause of
Reyes syndrome, a condition associated with fulminant hepatic failure.
Suspected poisoning in children result in thousands of attendances at A&E
department each year. Various drugs cause specific signs when taken in
overdose. Careful examination of the child should follow A, B, C protocol.
4) Theme: Chemotherapy
Select the most appropriate chemotherapeutic agent from the above list that
corresponds with the following actions and side effects:
Comments:
All cytotoxic agents have adverse effects. General side-effects include nausea, vomiting
and bone marrow suppression, alopecia and stomatitis. More specific side-effects are
listed in the questions above. Alkylating agents such as Cyclophosphamide may cause a
haemorrhagic cystitis. Asparaginase results in a dose related Pancreatitis.
The anthracyclines e.g. Doxorubicin and Daunorubicin are cardiotoxic, which is often
very difficult to detect. Monitoring with echocardiograms is advised. Vincristine is an
alkaloid agent and results in sensory motor neuropathy with long-term use. It also has an
affect on the autonomic system resulting in severe constipation and paralytic ileus. It
may also result in sensory changes with parathesis progressing to loss of tendon reflexes.
Bleomycin is the main drug resulting in lung damage and occurs in up to 10% of
patients. The damage is dose related.
Comments:
Hepatoblastoma is a malignant liver tumour. It may present with anorexia,
abdominal mass and jaundice. It is associated with cirrhosis as well as biliary
cirrhosis secondary to biliary atresia. Xeroderma pigmentosa is an autosomal
recessive condition of defective DNA repair. Skin damage arise and malignant
transformation results at multiple sites. Nesidio-blastosis is also known as beta
cell endocrine benign hyperplasia and affects the pancreas. Diagnosis is made
by hypoglycaemia with high serum Insulin and treatment is by Pancreatectomy.
6) Theme: SYNDROMES
A. Down's syndrome
B. Turner's syndrome
C. Noonan's syndrome
D. Klinefelter's syndrome
E. Treacher-Collins syndrome
F. Marfan's syndrome
G. Sotos syndrome
H. Klippel-feil syndrome
I. Laurence Moon Biedl syndrome
J. MCune Albright syndrome
Which is the most applicable diagnosis for the following children.
1) A 3-year-old boy with delayed motor development is reviewed regularly in the
child development clinic. He attends for routine annual blood tests to check his
thyroid function.
A. Down's syndrome
Note:
Children with Down’s syndrome are screened yearly for the development of
hypothyroidism. They should also be regularly assessed for the development of
myopia and hearing loss. These children have a predisposition to acute
lymphoblastic leukaemia (ALL), Alzheimer’s-like dementia and Atlanto-axial
subluxation.
2) A 16-year-old girl is being investigated for delayed menarche and short stature.
In her notes it is recorded that she had swollen feet at birth but she was lost to
follow-up.
B. Turner's syndrome
Note:
A karyotype should be performed in all girls presenting in this way. Pedal
lymphoedema at birth is a known presentation. Other associated features
include coarctation of the aorta, infertility, hypothyroidism and horse shoe
kidney.
3) A girl of 6 years has been found to have hypertension and coarctation of the
aorta. She has been referred to the growth clinic because of short stature.
B. Turner's syndrome
Note:
A karyotype should be performed in all girls presenting in this way. Pedal
lymphoedema at birth is a known presentation. Other associated features
include coarctation of the aorta, infertility, hypothyroidism and horse shoe
kidney.
1) A 5-year-old girl presents with rapid breast development, breast stage 4, over
a few months and an abdominal mass. There was no pubic hair or cliteromegaly.
G. Granulosa-theca cell tumour
Note:
The rapid onset of puberty is indicative of a tumour. In this case the alpha-
fetoprotein tumour marker will be raised. Symptoms result from the very high
oestradiol levels.
2) An 8 year old boy presents with testicular volumes of 8 mls bilaterally, pubic
hair stage 3 and genital stage 3. He has long-standing constipation, deteriorating
school performance and increased weight.
H. Hypothyroidism
Note:
Long standing hypothyroidism can cause precocious puberty through high levels
of TRH driving gonadotrophin secretion and cross reactivity of the FSH receptor
with TRH.
2) This drug when taken in pregnancy may result in premature closure of the
ductus arteriosis.
B. Aspirin
9) Theme: OBESITY
A. Type I diabetes
B. Pseudohypoparathyroidism
C. Persistent hyperinsulinaemic hypoglycaemia of infancy
D. Asthma treated with Fluticasone
E. Simple obesity
F. Prader Willi Syndrome
G. Type 2 diabetes
H. Hypothalamic tumour
I. Cerebral palsy
J. Hypothyroidism
For each of the following patients, choose the most likely cause for their obesity.
1) A 13-year-old boy presents with polyuria and polydipsia. There have been no
previous concerns regarding his health and development. He has mild asthma
treated with prophylaxis in modest doses over the winter months only. On
examination he has signs of acanthosis nigricans.
G. Type 2 diabetes
2) A 3-month-old baby presents with a generalized convulsion. He has fed
voraciously since birth, consuming in excess of 250 mls/milk/kg/day. Initial
investigations demonstrate a serum calcium concentration of 2.4 mmol/L
(normal) and a serum glucose concentration of 1.4 mmol/L.
C. Persistent hyperinsulinaemic hypoglycaemia of infancy
3) A 9-year-old boy, previously well, presents with a 6-month history of
increasing behavioural disturbances, increasingly severe headache and a
convulsion.
H. Hypothalamic tumour
Comments:
1. Type 1 DM is unlikely to present with obesity but rather weight loss.
Acanthosis nigricans is indicative of insulin resistance and is found typically in
the axillae and around the nape of the neck. These findings suggest type 2 DM
i.e. insulin resistance. However polydipsia and polyuria suggest insulinopenia
and a failing pancreas which may occur in the later stages of type 2 DM. 2. PHHI
is a defect of the K+ ATP channels in the beta cell of the pancreas. There is
autonomous secretion of insulin that is independent of the serum glucose
concentration. These babies will have detectable insulin at the time of
hypoglycaemia, which would not occur normally. Treatment is with diazoxide
and chlorothiazide, some require pancreatectomy. 3. Behavioural disturbance,
headache and seizures suggest intracranial pathology. Coupled with obesity
would suggest a hypothalamic tumour as this area of the brain is involved in
appetite regulation.
Comments:
Gross motor
Fine motor
Hearing and language
Social
You should know the age range for each milestone. Developmental milestones
are in Illingworth: 'The Normal Child'.
2) A 15 years old boy has felt tired, lost his appetite and has not grown in the last
year. His serum urea is 20mmol/l and serum creatinine is 575µmol/l. His Hb is
9.6g/dl.
E. Chronic renal failure
Note:
Chronic renal failure may have an insidious onset and may present with slowed
poor growth and delayed puberty.
3) A 2 week old boy presents to casualty with weight loss and inconsolable
crying. His serum sodium is 150mmol/l and his urine osmolality is 100 mosm/kg
(normal > 600).
C. Diabetes insipidus
Note:
Hypernatraemia with concomitant low urine osmolality suggest DI. Remember it
is important to establish whether nephrogenic in origin (treatment indomethacin
or chlorthiazide – thiazides – carbamzepine - chloramphenicol) or cranial
(treatment DDAVP = exogenous ADH = Desmopressin = ADH analogue).
A 6 day old infant is admitted with jaundice (serum bilirubin 300 micromol/l) and
feeding poorly for the past 48 hours. The infant was born at a gestational age of
36 weeks and weighed 2680g at birth. The following are some of the clinical
findings and results of investigations. In each case, select the most likely cause
of the jaundice from the list of options.
1) The infant was born after a difficult forceps delivery and the head appeared to
be swollen in the right parieto-occipital area. Jaundice developed after 24 hours.
The haemoglobin is 12 g/dl; there is indirect hyperbilirubinaemia.
C. Cephalhaematoma
2) The baby has a temperature of 38 oC and tends to bring up its feeds. The
circulating white cell count is 18x109 /l. Microscopy of urine from a suprapubic
aspirate shows large numbers of neutrophil polymorphs.
M. Sepsis
3) The liver and spleen are palpable and there is a family history of lethargy,
hepatosplenomegaly and poor feeding. The raised bilirubin is initially
unconjugated; in the second sample, the conjugated fraction tended to rise.
Urine examination is positive for reducing substances using Clinitest.
H. Galactosaemia
5) The baby was mostly breast fed and 20% of the bilirubin is conjugated.
Formula milk feeds caused a rapid fall in bilirubin levels.
B. Breast milk jaundice
Comments:
1. A cephalhaematoma is a subperiosteal swelling which can arise as a result of
forceps delivery. Complications result from anaemia due to bleeding into the
haematoma, and jaundice due to haemolysis within it
2. Sepsis likely due to urinary tract infection.
3. Galactosaemia is an autosomal recessive condition due to the absence of
galactose-1-phosphate uridyl transferase. This results in the intracellular
accumulation of galactose-1-phosphate which is toxic. Upon commencement of
milk feeds the child develops jaundice, vomiting, diarrhoea and failure to thrive.
4. Congenital Cytomegalovirus infection is typically characterized by the signs
described. CNS damage from congenital CMV infection exceeds that due to any
other infectious cause.
5. Breast milk jaundice is defined as neonatal jaundice persisting for more than
28 days, with a total bilirubin level greater than 5.9mg/dl, in an otherwise
healthy, thriving, breast-fed infant.
3) A 4 year old boy is admitted to casualty with fracture of her ulna after minor
injury. She is noted to have blue sclerae and hearing impairment.
G. Osteogenesis imperfecta
Note:
Osteogenesis imperfecta, a syndrome of fragile bones due to defect in the α-chain of type 1collagen, which can
be divided in to 4 separate types. There is widespread osteopaenia resulting in bone fragility, bow legs.
Individuals characteristically have blue sclerae and hearing impairment (conductive deafness). The condition has
variable inheritance with autosomal dominant and recessive forms, the latter being more severe.
Blue sclera – differential diagnosis
1) Marfan syndrome
2) Ehler-Danlos syndrome
3) Osteogenesis imperficta
4)Pseudo-xanthoma elasticum
A. 3 months
B. 8 months
C. 12 months
D. 18 months
E. 2 years
F. 3 years
G. 4 years
H. 5 years
I. 6 years
J. 7 years
For each description of a child's personal and social development choose, from
the list of options, the highest development age the child is most likely to have
achieved.
1) The baby is reliably reacting to sounds and is able to comply with a formal
hearing test.
B. 8 month
2) A child who is starting to seek adequate role models and assumes feelings
and habit of thought.
G. 4 years
3) Is friendly to strangers but is not yet ready to play games such as peek-a-boo.
B. 8 months
Comments:
This question relates to the personal and social aspects of normal development.
1) Between 8- 10 months babies become anxious when separated from the main
carer, usually the mother for example if mother leaves the room.
2) Between 9-10 months the infant is able to wave bye bye and enjoys games
such as peek-a-boo.
3) Between 18-24 months most children start to express their toilet needs.
4) Up until the age of 3 play is usually solitary, playing alongside their peers.
5) By 4 years the children usually start to role play for example pretending to be
the same sex parent and play involves other children in parallel first and then
interactively at around this age.
3) A 4 month old baby with cough fever and mild respiratory distress has
widespread crackles on auscultation.
J. Supportive treatment
Comments:
1) describes an anaphylactic reaction also known as angioneurotic oedema. In
this case there is difficulty breathing i.e. life-threatening. Treatment includes
100% oxygen, IM adrenaline and IV Hydrocortisone. Intubation may be
necessary.
2) The second case has croup as characterized by the barking cough.
Humidified oxygen can help for mild cases but more severe cases require
dexamethasone.
3) The principles of management for bronchiolitis includes supportive treatment
only. There is no specific treatment other than humidified oxygen; broncho
dilator therapy may be of some use
2) A one year old boy with a history of intermittent bleeding pr presents with
features of an interception
D. Meckel's diverticulum
Note:
Meckel's diverticulum is most common under the age of 2. The Meckel's
diverticulum is remnant of the vitilo-intestinal duct and can present with features
of intussusception or diverticulitis. Commonly presents with painless bleeding
and is diagnosed by a Meckel's scan.
3) This drug, when taken in pregnancy may result in a baby being born with
cranio-facial abnormalities, growth impairment and learning difficulties.
E. Phenytoin
Comments:
1) Lithium, a drug used in the treatment of bipolar affective disorder. If given in early
pregnancy is associated with a wide variety of cardiac defects with approximately 8%
having severe cardiac disease, Ebstein's anomaly being the most common (3% of all
cases).
2) Sodium Valproate tends to induce a neural tube defect (spina bifida) in approximately
2% of pregnancies and therefore should be avoided. It is also associated with
abnormalities of the orofacial and digits, compromising the foetal Valproate syndrome.
3) Phenytoin is well known for causing the foetal hydantoin syndrome, compromising
cranio-facial abnormalities and learning difficulties as well growth impairment.
Comments:
Heart failure – A number of congenital heart lesions will result in cardiac failure,
commonly in the first year of life. The baby becomes breathless particularly after
crying or feeding. The baby may be having difficulty completing feeds and as a
result there may be a problem with poor weight gain. Babies also are seen to
have sweating as a prominent symptom. On examination the baby may be
tachycardic and tachypnoenic. A murmur may be present or a gallop rhythm.
Oedema may be seen around the dependant parts of the body. Pulmonary
crepitations may also be heard. It may be possible to pick up heart enlargement
clinically and chest x-ray may reveal cardiomegaly and plethoric lung fields. In
the second case the unilateral nature of the reduced breath sounds and wheeze
strongly suggest inspissation of a foreign body. The final case has again
unilateral signs but on this occasion the dullness to percussion suggest a pleural
effusion.
A. Aerophagia
B. Alpha 1 antitrypsin deficiency
C. Galactosaemia
D. Hirschsprung's disease
E. Intussusception
F. Lactose intolerance
G. Mesenteric adenitis
H. Reyes syndrome
I. Thalassaemia
J. Wilson's disease
Select one of the above options that is the most appropriate diagnosis for the
following cases:
1) Usually presents with chronic liver disease often in association with
neurological features.
J. Wilson's disease
Note:
describes a child with Wilson's disease also known as hepatolenticular
degeneration. It is an autosomal recessive condition characterized by cirrhosis
of the liver, degenerative changes of the brain and Kayser-Fleischer rings on the
cornea. It is as a result of low Caeruloplasmin and low Copper excretion.
2) A 9 month old baby presents with a sudden onset of abdominal pain and
loose stools which have the appearance of red currant jelly.
E. Intussusception
Note:
Intussusception is an invagination of the bowel in to an adjacent segment. It
presents as paroxysmal pain occasionally with vomiting and palpation may
reveal a sausage shaped mass in the right upper abdomen. A delay in
diagnosis results in the child passing blood stained mucus rectally some times
known as red currant jelly. Intussusception can sometimes be reduced hydro-
statically, if unsuccessful surgery is required.
3) A 4 day old infant presents with severe abdominal distension and feculent
vomiting
D. Hirschsprung's disease
Note:
Hirschsprung's disease is absence of ganglia cells in part or all of the wall of the
colon. The child presents with bilious or feculent vomiting, constipation and
distension.
Select one option from the list above that is most suitable for the following
patients
1) A 2 year old girl is taken to the A&E department by her mother who says that
her child has diarrhoea and describes the stool as looking like peas and carrots.
C. No action
Note:
Describes a child with toddler diarrhoea due to a fast gut transit time. Children
between the ages of 6 months and 3 years may have this complaint which
manifests as a chronic diarrhoea. Children are otherwise healthy and thriving
with all investigations carried out being normal.
2) A 7 year old child presents with a 3 month history of abdominal pain. She is
found to have anaemia and colonoscopy reveals a cobble stone appearance.
D. Steroids
Note:
Relates to inflammatory bowel disease, Crohn's disease and ulcerative colitis
respectively. In Crohn's disease the colonoscopy will reveal cobbled stone
mucosal appearances with fistulae where as in ulcerative colitis (crypt
abscesses + Collar button ulcers)are present.
3) A 12 year old girl whose height and weight are on the 3rd centile complains of
diarrhoea with a history that the stools are difficult to flush away. She has an
itchy rash over her limbs.
B. Gluten free diet
Note:
relates to Coeliac disease. A sensitivity and intolerance to the gliadin protein in
rice, wheat and barley. Children present with failure to thrive, diarrhoea,
abdominal pain, anorexia and abdominal distension. Diagnosis is suspected by
elevated (anti-gliadin / anti-reticulin / anti-endomysial) antibodies and confirmed
by jejunal biopsies.
All of the following children present with a febrile illness. Based on the
symptoms presented below, select the single treatment option most likely to
alter the clinical course of the disease in each case. Each option may be used
once, more than once, or not at all
1) A playful and active 5 year old boy presents with a low grade fever and
bruising. The rest of the examination is normal. His platelet count is 14 x 109 /L
F. No medication
Note:
Childhood thrombocytopenia may occur in the setting of viral illness.
2) A 10 year old girl comes back from school camp with a temperature,
breathlessness and cough, which has been going on for 10 days
C. Erythromycin
Note:
Outbreaks of whooping cough may in school camps. The most vulnerable
children are not immunized.
3) A 5 month old baby presents with a fever, lethargy, poor feeding and a
generalized convulsion. An examination of the cerebrospinal fluid shows an
elevated number of neutrophil polymorphs
B. Cefotaxime
Note:
Meningitis should be suspected in any ill baby and may present with unusual
crying, poor feeding, fever, coma, fits and vomiting. Bulging or tense anterior
fontanelle, stiff neck, opisthotonus and shock may be present. For children more
than three months old cefotaxime is the treatment of choice.
4) A 3 year old Asian girl presents with a high temperature for six days, cervical
lymphadenopathy, conjunctivitis and a red tongue. There is a generalized rash,
with desquamation of the skin of the fingers and toes.
E. Immunoglobulin
Note:
Kawasakis disease is characterized by bilateral conjunctival injection, oral
mucosal changes with red sore tongue, polymorphous rash, lymphadenopathy
and desquamation of palms and soles. Inflammatory markers are elevated and
treatment is with intravenous immunoglobulin.
5) A 4 year old girl presents with a temperature of 39oC having just had a
generalized convulsion lasting 3 minutes; twenty minutes later, she is completely
alert again. Her older brother had similar fits at the age of 3 years
G. Paracetomol
Note:
Febrile convulsions are generalized tonic/clonic symmetrical seizures which
occur with rapid rises in temperature in children between the ages 3 months and
5 years who have no history of epilepsy or CNS disease.
1) A child can copy a square and a triangle but not yet a diamond.
I. 5 years
2) A baby transfers objects to his mouth and has a fine pincer grip using thumb
and forefinger.
D. 12 months
3) Can only copy a circle and builds a tower of 9 cubes.
G. 3 years
Comments:
This question relates to the fine motor area of development.
1) At 4 months the infant is able to grasp big objects and move them in to the
mid-line.
2) At 6 months the baby can grasp an object such a rattle and starts to transfer it
from hand to hand. He or she also starts to discover the rest of his or her body
parts.
3) The pincer grip develops between 6 or 9 months and by 10 months the fine
pincer grip is achieved with the baby being able to pick up small pellet like
objects between thumb and forefinger.
4) At 18 months the baby starts to spontaneously scribble if offered a crayon for
example.
5) At 24 months the child is able to copy a straight line.
6) By age 3 years the child can copy a circle.
7) By age 4 years the child can copy a cross.
8) By 4½ years the child can copy a square
9) By 5 years of age a triangle,
10) A diamond at about 6 years of age.
At the age of 3 the child starts to draw people usually starting as a “head and stick” extremity
person and as development progresses the person becomes more sophisticated.
Comments:
The relevant feature of the first case is the blindness and acidosis which is
probably due to Methanol, itself a weak acid but it causes lactic acidosis and
optic neuritis. The second case has features of CNS depression and
Benzodiazepines are typical. This should respond rapidly to Flumazenil. The
third scenario with oculogyric crisis suggests antipsychotics.
Comments:
Tension pneumothorax may result following trauma. It is a potentially life threatening event
with air accumulating under the pleura in the pleural space, which pushes the mediastinum
across the chest. Children may be shocked and will be hypoxic with reduced air entry and
hyperresonance. Distended neck veins may also be visible.
Pulmonary embolism is uncommon in infants and children. It may arise in children as a result
of surgery for example scoliosis surgery. It may also occur following prolonged inactivity. In
adolescents drug abuse, recent abortion or the oral contraceptive may be predisposing
problems. Clinical manifestations may suggest pneumonia. Dyspnoea is common associated
with pain. There may be no physical signs although the embolism is sufficiently large there
may be a pleural friction rub.
The clue in the third case the relatively silent chest associated with pulsus paradoxus. This
would suggest severe asthma. Other
Causes of pulsus paradoxus include (pericardial tamponade /effusion/ constriction and
myocarditis).
Select one of the above options that is the most appropriate diagnosis for the
following cases:
1) A 10 year old child develops severe vomiting and becomes encephalopathic
during a viral illness.
H. Reyes syndrome
Note:
Reyes syndrome is an acute disease of the liver often associated with a viral
infection or Salicylate toxicity . Laboratory findings include abnormal liver and
muscle enzymes. Treatment is supportive.
2) A 3 year old child with a 2 day history of headache and pharyngitis complains
of severe abdominal pain.
G. Mesenteric adenitis
Note:
Mesenteric adenitis commonly accompanying upper respiratory tract infections
and is due to inflammation in the abdominal lymph nodes. There is often a
history of pharyngitis and abdominal pain. Examination often reveals cervical
lymphadenopathy and central tenderness.
3) A 28 day old jaundice baby with early onset vomiting and diarrhoea.
C. Galactosaemia
Note:
Galactosaemia results as a result of galactose 1 phosphate uridyl transferase. It
accumulates in kidneys, liver and brain and clinical manifestations include
jaundice, hepatomegaly, hypoglycaemia, vomiting, seizures and poor weight
gain. Diagnosis is made by identifying urinary galactose. Treatment is dietary
adjustment.
3) A child with a history of Iron deficiency anaemia presents with per rectal
bleeding and is found to have this characteristic appearance.
H. Peri-oral pigmentation
Note:
refers to Peutz-Jeghers syndrome characterized by peri-oral pigmentation. A
history of Iron deficiency anaemia, colonoscopy may reveal polyps.
Comments:
This question relates to the personal and social aspects of normal development.
1) Between 8- 10 months babies become anxious when separated from the main
carer, usually the mother for example if mother leaves the room.
2) Between 9-10 months the infant is able to wave bye bye and enjoys games
such as peek-a-boo. Between 18-24 months most children start to express their
toilet needs.
3) Up until the age of 3 plays is usually solitary, playing alongside their peers.
5) By 4 years the children usually start to role play for example pretending to be
the same sex parent and play involves other children in parallel first and then
interactively at around this age.
3) A 14 year old phenotypic female presents with primary amenorrhoea. She has
normal female external genitalia but intra-abdominal testicles with an XY
karyotype.
F. Testicular feminisation syndrome
Note:
The third case has testicular feminisation, a condition associated with
testosterone receptor defects that result in insensitivity to testosterone with
resultant female genitalia.
1) A 7 month old baby has diarrhoea, which mother feels has been brought on
by the introduction of weaning. Mum is a known asthmatic.
E. Lactose free diet
Note:
refers to Cow's milk protein intolerance is mainly a clinical diagnosis with a
history that symptoms appeared at the time of cow's milk ingestion. The disorder
is usually temporary and can be managed by dietary adjustment.
2) A 13 year old Irish girl complains of diarrhoea. She is Iron deficient and
denies any history of GI upset after eating rice or potatoes. She has high anti-
reticulin antibodies
B. Gluten free diet
Note:
refers to Coeliac disease where a gluten free diet is appropriate. High reticulin or
more specifically now anti-TTG antibodies are expected. The diagnosis is
confirmed by jejunal biopsy.
3) A 10 year old boy presents with faecal urgency and bloody diarrhoea. He is
also under the care of ophthalmologists for a chronic iritis.
D. Steroids
Note:
relates to inflammatory bowel disease, Crohn's disease and ulcerative colitis
respectively. In Crohn's disease the colonoscopy will reveal cobbled stone
mucosal appearances with fistulae where as in ulcerative colitis crypt
abscesses are present.
3) An 11 year old boy with a 3 month history of abdominal pain and weight loss
presents with bloody diarrhoea.
E. Ulcerative colitis
Note:
The last question relates to ulcerative colitis a form of inflammatory bowel
disease. In this case the child presents with recurrent bouts of profuse bloody
diarrhoea often with mucus and abdominal pain. Associated features include
arthritis, pyoderma gangrenosum, erythema nodosum and anaemia.
Comments:
Administration of certain drugs to breast feeding mums may result in toxicity in
the infants if the drug enters the milk in pharmacologically significant quantities.
Some drugs also inhibit the babies sucking reflex. Other drugs inhibit lactation.
Amiodarone needs to be avoided as it may result in neonatal thyroid
abnormalities as there is a theoretical risk from the release of Iodine.
Benzodiazepine may render the infant drowsy resulting in poor growth.
Laxatives if used over a prolonged period may enter the breast milk resulting in
the baby developing diarrhoea.
A. Amiodarone
B. Aspirin
C. Benzodiazepine
D. Chloramphenicol
E. Heparin
F. Lactulose
G. Lithium
H. Sulfasalazine
I. Sulphonamides
J. Warfarin
Which of the above drugs, when prescribed to the mother, is associated with the
following abnormalities in the breast-fed infant:
Comments:
Administration of certain drugs to breast-feeding mums may result in toxicity in
the infants if the drug enters the milk in pharmacologically significant quantities.
Some drugs also inhibit the babies sucking reflex. Other drugs inhibit lactation.
Lithium is also to be avoided as it may result in reduced tone and cyanotic
episodes.
Aspirin may result in a possible risk of Reyes syndrome; regular use may impair
platelet function, as well as producing a hypoprothrombinaemia, especially if the
infant is low in Vitamin K stores.
Select the most appropriate diagnosis from the list above that best describes the
following cases
2) A 12 year old boy is noted to have a long thin face, micropenis, hypospadias
and has learning difficultie
J. XYY syndrome s
Note:
relates to a child with XYY syndrome. Individuals are usually tall and have
learning difficulties and abhorrent ﻣﺷﻣﺋزbehaviour.
3) A child is noted to have macrocephaly and macroorchidism.
B. Fragile X
Note:
describes a boy with Fragile X syndrome. Features include moderate learning
difficulties, speech delay and autistic features. They have large heads and
prominent ears as well as testicular enlargement.
1) A 7 year old girl who has felt anorexic since the previous evening and has
vomited 3 times since. She has abdominal pain, which was made worse by the
bumpy car journey to hospital.
B. Appendicitis
Note:
A typical description of appendicitis. In the younger child/ baby there is often a
later presentation with perforation of the appendix being relatively more
common, as these children are not able to articulate their pain and localization of
pain is more difficult to discern with examination.
2) A 4 year old boy who has a sore throat, mild fever and peri-umbilical
abdominal pain.
E. Mesenteric lymphadenitis
Note:
Preceding sore throat and periumbilical pain are typical of mesenteric
lymphadenitis in a relatively well child.
3) A 9 year old boy has intermittent severe generalized colicky abdominal pain
which is getting worse. He has started to vomit over the last 24 hours. He has a
history of recurrent abdominal pain. Examination reveals a mass in the left iliac
fossa.
C. Constipation
Note:
This is a description of chronic severe constipation, which in extreme cases can
cause obstruction. There is faecal loading implying the chronicity. When it is this
severe it is important to rule out other pathology and consider the possibility that
is a manifestation of child abuse
2) A 12 year old boy complains of a numb feeling to the left side of his face. He
is unable to whistle or show is teeth on that side.
C. Facial
Select the most appropriate diagnosis from the above list that would explain the
following cases.
1) A 6 year old girl with a history of Still's disease presents with a 2 month
history of headache and diplopia She is admitted to hospital. Investigations
carried out include a normal CT scan, normal CSF profile and normal opening
pressures.
E. Pseudotumour Cerebri
2) A 4 month old infant presents with poor feeding and irritability. On
examination he has a torticollis and his head circumference has increased form
the 50th – 98th centile since his last measurement 6 weeks ago.
I. Sub arachnoid haemorrhage
3) A 16 year old obese girl with a long history of headaches is found to have
papilloedema. The rest of the neurological examination is normal as is the CT
scan.
A. Benign intra-cranial hypertension
Comments:
Intra-cranial tumours- brain tumours are second to leukaemia as the most prevalent
malignancy in childhood. Children present with either signs of increased intra-cranial pressure
or with focal neurological signs. Infratentorial tumours are more common in the paediatric age
group than supratentorial tumours and the MRI scan is the best radiological tool for
delineating brain tumours. Pseudotumour cerebri is a clinical syndrome mimicking brain
tumours and characterised by normal CSF pressure and cell count and a normal structure to
the brain. Causes of which are multiple for example metabolic disorders, infections, drugs,
haematological disorders. Treatment focuses towards the underlying aetiology and pseudo
tumour cerebri is mainly self limiting. Benign intracranial hypertension is associated with
pregnancy as well as drugs such as the oral contraceptive, tetracyclines and rarely Growth
Hormone therapy. It is more common in association with obesity. LP usually reveals high
opening pressures and treatment includes removal of any precipitant with possible serial LP
and removal of CSF.
2) A 10 year old boy with lower abdominal pain for the last 10 days presents with
a history of passing 6-8 loose stools. Temperature is 38.8°C. He is tender in the
right lower quadrant and has an anal fistula.
B. Inflammatory bowel disease
Note:
Inflammatory bowel disease results in recurrent lower abdominal pain, often
radiating to the back. The pain is dull and crampy in nature and is associated
with fever, weight loss and tenesmus.
3) A 14 year old haemophiliac patient presents with lower abdominal pain and a
limp. Attempts to straighten his leg results in excruciating pain
H. Psoas haematoma
Note:
Bleed into the Psoas muscle which may be due to coagulopathy or secondary to
sepsis (DIC) results in back pain radiating to the hip with painful flexion at the hip
joint.
Comments:
Gross motor
Fine motor
Hearing and language
social
You should know the age range for each milestone. Developmental milestones
are in Illingworth: 'The Normal Child'.
3) A 10 year old girl presents with weight loss, peri-orbital oedema, weakness
and is noted to have a photosensitive rash.
B. Dermatomyositis
Note:
relates to the diagnosis of Dermatomyositis, a multi system disease where
individuals have a violaceous heliotrope rash around the eyes, Guttron’s patches
on the knuckles and inflammation of muscles and joints resulting in weakness in
muscles and arthritis. The condition is often associated with underlying
malignancy.
2) A 13 year old girl presents with recurrent abdominal pain and haematuria.
She is apyrexial
J. Ureteric calculus
Note:
Urolithiasis or urinary tract calculi present with haematuria (macro or
microscopic) abdominal pain, dysuria and voiding abnormalities.
3) An 8 year old girl with a history of recurrent central abdominal pain presents
with pallor and an Iron deficiency anaemia.
D. Meckel's diverticulum
Note:
Meckel's diverticulum results in peri-umbilical sharp pain associated with
haematochezia
Haematochezia (bright red blood per rectum)
2) A baby is born with an ipsilateral diffuse birth mark over the right side of his
face. He develops seizures in the second week of life.
I. Trigeminal
3) A 15 year old boy recovering from a head injury is unable to abduct his right
eye beyond the mid-line.
A. Abducens
Comments:
The first case has probable benign intracranial hypertension causing
papilloedema. The optic nerve is examined by fundoscopy as well as visual
acuity and visual fields. The Trigeminal nerve – sensory distribution to the face is
divided in to ophthalmic, maxillary and the mandibular routes and motor function
may be tested by examining the masseter and temporalis muscles. The
abducens nerve innovates bilateral rectus muscle of the eye therefore paralysis
causes medial; deviation of the eye and inability to abduct the eye beyond the
mid-line.
A. Guillain-Barre syndrome
B. Transverse Myelitis
C. Multiple sclerosis
D. Chronic fatigue syndrome
E. Spinal tumour
F. Dermatomyositis
G. Congenital myopathy
H. Duchenne muscular dystrophy
I. Fascioscapulohumeral dystrophy
J. Spinal abscess
For these children with lower limb weakness select the most likely diagnosis
1) A 4 year old boy is brought to clinic by his mother who feels he has weak legs
and is finding climbing the stairs difficult. He walked independently at 20 months
and has received speech therapy for a mild speech delay. On examination his
lower limb reflexes are normal, his muscles are well developed distally although
weak proximally.
H. Duchenne muscular dystrophy
Note:
DMD occurs in boys(X-linked recessive) and presents with delayed walking i.e.>
18months. Speech delay, cardiomyopathy, scoliosis and calf pseudohypertrophy
are also features.
2) A 12 year old girl presents with a 5 day history of progressive weakness in her
legs and is now unable to walk. She has been passing urine frequently and with
difficulty. On examination there is power with gravity eliminated in her legs, very
brisk ankle and knee jerks and upgoing plantar responses. Her bladder is
palpable up to the umbilicus. Sensation is reduced to touch below T5, vibration
and position sense are preserved 3 weeks previously she had a presumed viral
illness. MRI brain is normal but shows swelling and increased signal over the
spinal cord T5-7 on T1- weighted images. Lumbar puncture shows 33
lymphocytes and monocytes per microlitre and protein 570 mg/L in the CSF.
B. Transverse Myelitis
Note:
The features are suggestive of a lower motor neurone lesion which could also be
caused by a spinal tumour / abscess however the MRI would demonstrate these
latter pathologies. The CSF lymphocytosis and increased protein may be seen in
transverse myelitis. Transverse myelitis has unknown aetiology but has been
postulated to have a viral or mycoplasma origin.
3) A 14 year old girl has been off school for 4 months with headaches, tiredness
and weakness of her legs. In the initial weeks of her illness she had a low-grade
fever, sore throat and cervical lymphadenopathy. A blood count showed atypical
lymphocytes and liver function tests show a raised AST. These were re-checked
1 month later when they had normalised and thyroid function, urine culture urea
& electrolytes were also normal. It is difficult to get her full co-operation for
examination but there are no objective signs of weakness and reflexes are all
present, symmetrical with downgoing plantar responses.
D. Chronic fatigue syndrome
Note:
The previous viral illness and subsequent lethargy with no consistent abnormal
investigations suggest chronic fatigue syndrome.
Comments:
Gross motor
Fine motor
Hearing and language
Social
You should know the age range for each milestone. Developmental milestones
are in Illingworth: 'The Normal Child'.
A. Ano-rectal atresia
B. Hirschsprung’s disease
C. Infantile hypertrophic pyloric stenosis
D. Intestinal atresia
E. Intussusception
F. Meconium ileus
G. Necrotizing enterocolitis
H. Tracheo-oesophageal fistula
I. Volvulus neonatorum
Select the most appropriate diagnosis from the list above that would explain the
presentation of the following neonates:
1) A newborn baby girl presents with gross abdominal distension and bilious
vomiting. She has also got cystic fibrosis and her abdominal x-ray shows
distended coils of bowel, but no fluid levels.
F. Meconium ileus
3) A newborn baby boy presents with mild abdominal distension and failure to
pass meconium after 24 hours. X-ray reveals dilated loops of bowel with fluid
levels.
B. Hirschsprung’s disease
Comments:
One in 15 000 newborns will have a distal small bowel obstruction secondary to
abnormal bulky and viscid meconium. Ninety percent of these infants will have
cystic fibrosis and the abnormal meconium is the result of deficient intestinal
secretions. This condition presents during the first days of life with gross
abdominal distension and bilious vomiting. X-ray of the abdomen shows
distended coils of bowel and typical mottled ground glass appearance. Fluid
levels are scarce as the meconium is viscid. Necrotizing enterocolitis is more
common in premature infants. Mesenteric ischemia causes bacterial invasion of
the mucosa leading to sepsis. Terminal ileum, caecum and the distal colon are
commonly affected. The abdomen is distended and tense, and the infant passes
blood and mucus per rectum. X-rays of the abdomen shows distended loops of
intestine and gas bubbles may be seen in the bowel wall. Hirschsprung’s
disease is an absence of ganglion cells in the neural plexus of the intestinal wall.
It is more common in boys than girls. The delayed passage of meconium
together with distension of abdomen is the usual clinical presentation. A plain
abdominal x-ray will demonstrate dilated loops of bowel with fluid levels and a
barium enema can be helpful when it demonstrates a cone with dilated
ganglionic proximal colon and the distal aganglionic bowel failing to distend.
pH 7.51 (7.35-7.45)
PO2 12 KPa (95 mmHg)
PCO2 4.7 KPa (35 mmHg)
Blood Urea 11 mmol/l
Sodium 131 mmol/l
Potassium 3 mmol/l
Chloride 83 mmol/l
2) A 7 year old girl presents with a 3 day history of rash and ankle swelling. She
had a cold 4 weeks previously, but has otherwise been healthy. 39+1/40,
2.96kg. No neonatal problems. No drugs or medications. Fully immunized. On
examination she has palpable non-blanching purple spots 1-4 mm in diameter
especially over the shins and buttocks. Her left ankle is swollen, warm and
tender, with restricted movement. What is the most likely diagnosis?
1-Viral infection
2-Trauma/ child abuse
3-Streptococcal infection
4-Vasculitis eg HSP
5-Thrombocytopaenia
Comments:
The history is of preceding URTI followed by vasculitis on the shins and
buttocks, and ankle swelling. This is classical of Henoch-Schonlein purpura. The
pathological lesion is a vasculitis, hence the lesions are often palpable. In
contrast thrombocytopaenic purpura are not raised. The classical features are
rash, joint swelling, haematuria, and GI symptoms (vomiting, abdominal pain,
PR bleeding, occasional intussusception).
3) A 2 month old baby is admitted with seizures and failure to thrive. Follwoing a
seizure he is found to have a blood glucose concentration of 1.2 mmol/l. Other
biochemistry reveals a lactic acidosis and hyperlipidaemia. Examination reveals
hepatomegaly with palpable kidneys. What is the most likely diagnosis?
1-Gaucher's disease
2-McArdle's disease
3-Niemann-Pick disease
4-Pompe Disease
5-Von Gierke disease
Comments:
This baby has hypoglycaemia accounting for fits, associated with lactic acidosis
and hepatomegaly which would point to a diagnosis of von Gierke's disease.
This is a glycogen storage disease due to deficiency of glucose-6-phosphatase.
Glycogen is stored in both liver and kidney causing enlargement.
Both Gaucher and Niemann-Pick disease are lipid storage disorders.
McArdle's disease is a glycogen storage disease affecting muscle rather than
liver as is Pompe's disease. Neither would be expected to produce profound
hypoglycaemia.
4) A 15 month old child with flexural eczema presents with a 3 day history of
cough and wheeze. There is a family history of hay fever. On examination his
saturations are 92% in air, with a respiratory rate of 55/min and moderate
recession. The heart rate is 150/min.
1-Gastroesophageal reflux
2-Allergic rhinitis
3-Sinusitis
4-Asthma
5-Croup
Comments:
This child has virus-induced wheeze on an atopic background. He may well be an early
asthmatic, in which case recurrent episodes of cough and wheeze can be anticipated.
5) An overweight twelve year old boy attends A+E complaining of hip and knee
pain after a minor fall from his bike. On examination his knee appears normal
but there is restricted range of movement at the hip. The likely diagnosis is:
1-Chondromalaichae patella
2-Osteosarcoma
3-Perthe’s disease
4-Septic arthritis
5-Slipped upper femoral epiphysis
Comments:
Slipped upper femoral epyphesis is most common in obese, adolecent boys with a
positive family history. 25% are bilateral. Presentation may be with a coxalgic externally
rotated gait, decreased internal rotation, thigh atrophy and hip, thigh and knee pain.
6) A 15 year old boy presents with a painful lower right arm after falling from his
motorbike. X-ray reveals a fracture of the distal radius. What is the name for this
fracture?
1-Bennett's fracture
2-Colle's fracture
3-Galeazzi' s fracture
4-Monteggia' s fracture
5-Pott's fracture
Comments:
Bennett's fracture is an intra-articular fracture of the base of the first metacarpal.
Galeazzi's fracture involves the radial shaft with dislocation of the distal
radioulnar joint.
Pott's fracture is a general term applied to fractures around the ankle.
7) A 12 day old girl presents with poor feeding, vomiting and lethargy. Born at
37+6/40, 2.98kg, no neonatal problems. Uncomplicated pregnancy and delivery.
No drugs or medications. No immunizations. No FH/SH of note.
On examination she is thin and wasted. She has occasional twitching of the
eyelids and mouth. She responds slightly to voice. Weight <3%, OFC 25%,
temperature is 36.5°C (tympanic), RR 40/min, HR 150/min. Chest clear, no
murmur. No organomegaly. No rash or dysmorphic features.
8) 7 year old girl presents with high fever and severe left-sided throat pain. She
has had difficulty in swallowing over the last 2 days, and has been finding it
increasingly uncomfortable to open her mouth. Her voice is muffled and she
dribbles saliva. She was born at 41/40 gestation weighing 4.0kg and there were
no neonatal problems.
1-Retropharyngeal abscess
2-Foreign body aspiration
3-Anaphylaxis
4-Croup
5-Peritonsillar abscess
Comments:
The history suggests a peritonsillar abscess (quinsy) on the left side, a complication of
Group A Strep. sore throat. A fever greater than 39.4°C is associated with severe
disease, and treatment is by surgical drainage.
9) Feeding difficulties in the neonatal period may be due to all of the following
except:
1-Prematurity.
2-Hiatus hernia.
3-Cerebral birth trauma.
4-Physiological jaundice
5-Congenital heart disease
Comments:
All of the options are associated with feeding difficulty except for physiological
jaundice which is benign, shortlived and not generally associated with
symptoms.
14) A 3 year old by presents with a 2d history of coryza and cough, particularly
at night. On examination he has Harrison's sulci and is on the 3rd centile for
weight and height. Chest auscultation reveals scattered wheeze.
1-Gastroesophageal reflux
2-Allergic rhinitis
3-Sinusitis
4-Asthma
5-Croup
Comments:
The examination findings suggest chronic undertreated asthma. If he does not respond
rapidly to asthma therapy a sweat test may be indicated to exclude CF. It is likely that he
will respond to regular inhaled low-dose steroids.
15) A 4 year old girl is referred with behavioural problems. Her speech is
generally well-formed. However, she finds it difficult to sustain conversations
because she talks obsessively about her own interests. She avoids eye contact.
She plays on her own for hours with her dolls, dressing and undressing them
repeatedly. Attempts to play with others results in tantrums ﻧوﺑﺎت ﻏﺿب. Born at
39+6/40, 3.18kg no neonatal problems. No drugs, allergies. Fully immunized. No
FH/SH of note.
On examination she is on the 50% for height and weight. There are no specific
abnormalities to find.
16) A 9 year old boy presents with a history of headache and persistent green
nasal discharge. At night he has a cough and snores loudly. The headache is
exacerbated by leaning forwards.
1-Gastroesophageal reflux
2-Allergic rhinitis
3-Sinusitis
4-Asthma
5-Croup
Comments:
The picture is one of upper airways obstruction associated with nasal discharge, most
likely due to sinusitis. In this case the maxillary and frontal sinuses are most likely to be
involved.
17) 15 year old boy is knocked out for 2 minutes while playing rugby. He
recovers rapidly, but cannot recall the incident. Apart from mild asthma requiring
beta-agonists before sport he is otherwise well.
1-Child abuse
2-Head injury
3-Hypoglycaemia
4-Diabetic ketoacidosis
5-Substance abuse
Comments:
He has had a traumatic concussion, which refers to a diffuse brain injury. It is not
necessary to be knocked out to have concussion. The Colorado Medical Society
guidelines grade such injuries into 3 groups:
1. Confusion alone
2. Confusion and amnesia
3. Confusion, amnesia and loss of consciousness
To avoid the Second Impact Syndrome return to sport should be allowed after
20 mins (group 1), 1 week (group 2) or 1 month (group 3) respectively.
18) A 17 year old student presented with recurrent attacks of dizziness. Which
one of the following additional features is most suggestive that she has an
anxiety disorder?
19) A young boy is presents with aches and pains. Which of the following
features would argue against a diagnosis of osteomalacia?
1-Bow legs
2-raised alkaline phosphatase
3-Low serum phosphate level
4-Normal serum calcium
5-advanced bone age
Comments:
Clinical features include: bowing of tibia and fibula, craniotabes (soft skull),
thickening of forearm at the wrist, and of the costo chondral junction (rachitic
rosary). Dietary Vitamin D deficiency stimulates secondary hyperparathyroidism,
which causes increased renal excretion of phosphate, low serum phosphate,
and reduced urinary calcium excretion. Calcium concentrations may be low or
low normal. Raised alkaline phosphatase results from osteoblasts forming
unmineralised matrix. Short stature and delayed bone age are associated, rather
than advanced bone age.
Comments:
In interpreting blood gas results, the following sequence may be useful:
If the pH is low then an acidosis is present, and inspecting the CO2 will enable
you to determine whether this is due to respiratory or metabolic causes.
Inspecting the PO2 will tell you whether the patient is hypoxic or not. In this case,
the pH is reduced, and the CO2 is high, with a base deficit of only -4, insufficient
to explain the acidosis from metabolic causes. This is, therefore, a respiratory
acidosis, and the PO2 is also low suggesting type 2 respiratory failure. Possible
causes would include severe pneumonia, end stage asthma or neurogenic
causes such as guillain-Barre. In asthma, the initial stages show a low CO2, with
this climbing only to accompany failing respiration. The results would therefore
be consistent with late severe asthma. In bronchopulmonary dysplasia, there is
usually long-term CO2 retention with compensatory increase in bicarbonate
leading to a positive base excess and normal pH. Bicarbonate is usually only
considered if the base deficit exceeds about -8.
21) An 18 month old boy because of maternal concerns about delayed speech.
He was born at 39+4/40 weighing 2.6kg and there were no neonatal problems.
He sat at 12/12, and now pulls to stand. He is able to make a tower of 2 inch-
high bricks. He is saying 2-3 single words which his mother can understand and
seems to hear well. He drinks from a bottle. He is fully immunized, on no
medications, and there is no FH/SH of note.
On examination he looks well. He is on the 25th centile for height and weight
and OFC. There are no specific findings of note.
22) A 15 month old girl presents with stridor and respiratory distress. She has
had a crusty nasal discharge for 2 days with low grade fever. She went to bed as
usual at 8pm, but awoke 2 hours later. Previous history was unremarkable.
23) A 14 year old girl presents with a history of cough and breathlessness on
exercise. She has seasonal rhinitis, and admits to have started smoking. Clinical
examination is unremarkable.
24) A 10 year old boy attends A+E with a two day history of a limp. He has
recently been unwell. On examination he is apyrexial and movement at his hip is
uncomfortable.
1-Congenetal dislocation.
2-Perthes disease
3-Septic arthritis
4-Slipped upper femoral epiphesis
5-transient synovitis
Comments:
Transient synovitis is the most common cause of hip pain in childhood but other more
serious causes should be excluded before it is diagnosed. The cause is unknown but it
can be related to viral infection, allergic reaction or trauma.
25) A 9 week old infant is brought in unresponsive. Mother says she has well
apart from episodes of screaming every evening, which last several hours at a
time. She was born at 38+2/40 weighing 3.1kg and there were no neonatal
problems. Parents are unmarried teenagers.
On examination she has 3 small possible bruises on her face. She has a
temperature of 34.5°C, RR 30/min (irregular pattern), HR 130/min. She is floppy
with a full fontanelle. Fundoscopy shows flame-shaped haemorrhages. BM stix
is 3.9 mmol/l.
1-Child abuse
2-Hepatic failure
3-Hypoglycaemia
4-Diabetic ketoacidosis
5-Substance abuse
Comments:
The history suggests a previously healthy child with colic of inexperienced parents. The
facial bruising suggests grip marks. Given the full fontanelle, comatose state of the
child, and flame-shaped haemorrhages, Shaken baby syndrome is most likely. It is
important to exclude infection with DIC or a coagulopathy.
26) A 2 year old child presents with delayed language development. He was
born at term weighing 3.21kg and there were no neonatal problems. Gross
motor, vision and fine motor development are normal. Mother complains that he
'doesn't listen' especially when he is in another room. His speech is restricted to
single words, and only mother understands them.
27) A 3 year old girl presents with a 5 day history of neck pain and fever, with
increasing difficulty in swallowing. Over the previous night she woke several
times with difficulty in breathing. She was born at 36+6/40 weighing 2.8kg and
there were no neonatal problems.
On examination her head held to the right. She has audible stridor when
agitated, and she has very tender glands in the neck. Her temperature is 38.6°C,
RR 20/min and HR 100/min. She has moderate neck stiffness.
1-Retropharyngeal abscess
2-Foreign body aspiration
3-Anaphylaxis
4-Croup
5-Peritonsillar abscess
Comments:
The history suggests a tonsillitis progressing to retropharyngeal abscess with increasing
upper airways obstruction. ENT examination in children with stridor should take place
where facilities are available for immediate intubation. In this case it revealed a
massively enlarged right tonsil with profuse exudate. This required surgical drainage and
removal with antibiotic cover.
28) A 2.5 year old boy is referred with behaviour problems and poor speech. He
speaks very seldom, and is unable to sustain a conversation. He always prefers
to play on his own, lining up his Thomas the Tank engine set repetitively,
ignoring his older and younger siblings. He throws tantrums when his routine is
disturned. He was born at 37+3/40 weighing 3.51kg and there were no neonatal
problems. Pregnancy had been uncomplicated.
29) A 12 year old boy complains of persistent clear nasal discharge during the
spring and summer. He constantly rubs his nose and his eyes. Sometimes he
has an associated cough. The symptoms usually get better in the autumn. He
was diagnosed with asthma at 2 years, but this has improved with age. He rarely
requires beta agonist inhaler.
On examination he has a clear nasal discharge, nasal speech, and pink non-
purulent conjunctivae.
30) 5 month old boy has had a mild coryza for 2 days. Mother hears him making
odd noises on the baby monitor. When she investigates she finds him floppy,
pale and not breathing. She stimulates him, attempts mouth-to-mouth
resuscitation and calls an ambulance. They give bag ventilation and he starts
breathing again. O2 is given on the way to hospital. Born at 32/40 gestation
weighing 1.7kg he required 3d ventilation for surfactant-deficient lung disease.
Since discharge he has been thriving.
31) A 3 year old child presents with delayed speech. Although he seems to
understand full sentences and commands he says only occasional single words.
He was born at 41/40 weighing 3.4kg and there were no neonatal problems. He
is fully immunised, on no medications, and comes from a middle class articulate
family.
On examination he is on the 25th centile for height, weight and OFC. There are
no specific abnormalities to find. ENT examination is unremarkable.
32) The parents of an eight year child divorce. The child lives with his mother
with his father visiting at weekends. On his father's visits, the child is sullen and
irritable but when his father leaves the boy cries, clings to his father and askes
his father to come back to live with his mother. What is the most appropriate
response that the father can make during these episodes?
1-Big boys don't cry
2-I left your mother but I am not leaving you.
3-I will see you next weekend
4-You take care of the house now I've left
33) An infant is diagnosed with pyloric stenosis. Which of the following is true of
this diagnosis?
34) A study has been designed to investigate whether a certain drug plus
physiotherapy treatment is better than drug treatment alone in the management
of rheumatoid arthritis. After randomizing the patients a small proportion of the
drug plus physiotherapy group decide to drop out of the study or omit some
treatment sessions specified in the research protocol. What is the correct way of
analysing the subsequent data?
Comments:
This is the principle of 'intention to treat'. It is possible that the physiotherapy
intervention was harmful to the patients and this is why they left. Intention to
treat helps to reduce bias by sticking to the original allocation of treatment and
analyzing the patient in that treatment group even (and concentrate for this bit)
even if they don''t get it!
35) A 17 year old female presents with acute breathlessness. She has had
asthma for approximately 3 years and recently commenced new therapy. Which
agent may be responsible for this exacerbation?
1-Salmeterol
2-Theophylline
3-Beclomethasone
4-Ipratropium bromide
5-Monteleukast
Comments:
Salmeterol has been reported to produce an acute exacerbation of asthma,
possibly through an acute hypersensitivity reaction.
36) A 17 year old male is brought to clinic as his parents are concerned about
changes in his behaviour. Which of the following suggest a diagnosis of
Schizophrenia?
Comments:
Incongruity of affect is emotion inappropriate to circumstances. There may be
intellectual defects from prolonged institutionization اﻹﻗﺎﻣﺔ ﺑﻣؤﺳﺳﺎت ذوى اﻟﮫﺎھﺎتor
treatment rather than the illness itself. Auditory hallucinations with clouding of
conciousness suggest delirium and memory impairment possible organic brain
disease. The panic in crowds suggests an anxiety disorder and grandiose
ideations suggest hypomania
37) An 18 year old female is reluctant to eat food that is prepared for her. Which
one of the following would be most consistent with a diagnosis of anorexia
nervosa?
1-she believes the food is poisoned
2-she has a full-time job
3-she has bouts of heavy drinking
4-she regards herself as ill
5-she secretly abuses anabolic steroids
Comments:
Anorexia nervosa is associated with the abnormal perception of body image.
They generally feel well despite the protestations of others who feel that they
look awful. They exercise avidly and until the very late stages of the disease
hold down full time jobs. There is no delusion with regard to the food being
poisoned. Heavy drinking associated with food refusal would suggest alcoholism
and alcoholic gastritis. The secretive abuse of laxatives would fit with the
diagnosis rather than anabolic agents.
38) Which of the following organelles contains enzymes responsible for the
digestion of constituents of cells and tissues?
1-endoplasmic reticulum
2-Gogli apparatus
3-lysosomes
4-microtubules
5-mitochondria
Comments:
The lysosomes contain the enzymes and molecules such as oxidases, free radical etc
responsible for the breakdown of intracellular components. Micortubules are involved in
mitotic processes and intracellular transportation. The mitochondria produce energy for
cellular functions.
Comments:
There are 9 essential amino acids; all are required to maintain nitrogen balance.
Carbohydrates constitute 30-45% of total caloric intake in children. Essential
amino acids cannot be synthesized and must be obtained from the diet. Human
milk contains the proteins casein, lactoglobulin and lactalbumin, which provide a
sufficient source of protein.
40) Apoptosis is the process of programmed cell death and occurs in cells that
have damaged DNA. A mediator of this process is a tumour suppressor gene
that inhibits mitosis and promotes apoptosis. This gene is:-
1-bcl-2
2-caspases
3-fas (CD95)
4-p53
5-ras
Comments:
bcl-2 is an inhibitor of apoptosis. fas is a cell receptor and caspases are present
in all cells both promote apoptosis but are not tumour suppressor genes. ras is
an oncogene.
42)A 10 year old child is found to have neurofibromatosis. Which of the following
statements correctly applies:
1-She will most probably be mentally retarded
2-The finding of 2 café au lait spots in her 6 year old sibling suggests he may be
affected
3-Her condition was inherited in an autosomal recessive fashion
4-Freckling of the back would be expected
5-There may be no family history of the condition
Comments:
Mental retardation may be a clinical feature of the condition but is not a usual
clinical feature. Six or more café au lait spots before the age of puberty would
assist in making a diagnosis, along with other clinical findings such as Lisch
nodules, and optic nerve gliomas. The condition is autosomal dominant.
Freckling of the inguinal and axillary regions occur. 30-50% of new cases are
due to spontaneous mutations.
1- A 6-month-old previously healthy infant presents with a 2-day history of cough and
difficulty breathing. On physical examination, she appears lethargic, pale, and poorly
perfused. She exhibits marked tachypnea, and auscultation of the chest reveals decreased
breath sounds bilaterally and poor aeration. She has supraclavicular and intercostal
retractions.
Of the following, the MOST appropriate therapy for this infant is
A. continuous positive airway pressure via face mask
B. endotracheal administration of surfactant
C. endotracheal intubation and positive pressure ventilation
D. negative pressure ventilation
E. nitric oxide
3- During the health supervision visit for a 5-year-old child, his father states that the boy
is "always coughing." His mother dismisses this, stating that her son "keeps a cold."
Further questioning reveals that the child coughs when he has an upper respiratory tract
infection, during exercise, upon exposure to the neighbor's cat, and almost every night.
Results of the physical examination are normal.
Of the following, the MOST likely diagnosis for this child is
A. asthma
B. chronic sinusitis
C. cystic fibrosis
D. no abnormality
E. postnasal drip
6- The father of a 12-year-old girl is concerned about her recent lack of interest in
physical activity. She says that it is "just too hard, and I get out of breath." Findings
from a complete history, physical examination, and chest radiography are normal. An
exercise test is terminated when fatigue and breathlessness are induced, but the results of
pulmonary function testing remained normal throughout the test.
Of the following, The MOST likely explanation for these symptoms is
A. asthma
B. cardiac disease
C. depression
D. muscle weakness
E. sarcoidosis
8- A 12-year-old girl presents with signs and symptoms suggestive of asthma. You order
pulmonary function studies.
Of the following, spirometry is MOST useful to measure
A. airway resistance
B. expiratory flow rate
C. functional residual capacity
D. intrapulmonary shunting
E. static compliance
9- A 2-year-old child who has asthma that is well controlled with home nebulizer
therapy suddenly develops coughing after playing with a small plastic toy. Physical
examination reveals unlabored breathing, with an intermittent, nonproductive cough and
diffuse expiratory wheezing that is greater on the right side.
Of the following, the appropriate NEXT step in determining the cause of this patient's
symptoms is to
A. administer a nebulized bronchodilator
B. arrange for a pH probe study
C. initiate a trial of oral antibiotics
D. obtain inspiratory and expiratory chest radiographs
E. perform pulmonary function spirometry
11- A 7-year-old child has had persistent nighttime cough for 1 year. Administration of
over-the-counter cough syrups has not been helpful.
Among the following, the MOST likely cause of the cough is
A. foreign body
B. hyperresponsive airway disease
C. immotile cilia syndrome
D. psychogenic cough
E. tuberculosis