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Hematologica,metabolic,endrinology
MRI-scan for brain
MRI and CT scans in moderate-to-severe Huntington's disease show a loss of striatal volume
and increased size of the frontal horns of the lateral ventricles
If genetic testing is considered then extensive genetic counselling in a specialist unit is
required in view of the implications of an untreatable, familial, progressive, neurodegenerative
disease.
Testing for alternative causes of movement disorders (including SLE, antiphospholipid
antibody syndrome, thyroid disease and Wilson disease) and dementia.
10 Hepatolenticular degeneration(wilsons disease) Pathophysiology, clinical forms,
treatment?
Wilson's disease is a disease of copper toxicity. Absorbed dietary copper is bound mainly to
albumin in the portal circulation from which it is avidly extracted by hepatocytes. Hepatocellular
copper is subsequently used for cellular metabolic needs, incorporated into ceruloplasmin or
excreted into bile. The transport of hepatocellular copper to bile is thought to involve a vesicular
pathway (Golgi apparatus) that depends on ATP7B (copper transporting P-type ATPase)
function.4 The absence or diminished function of ATP7B results in a decrease in biliary copper
excretion, which is responsible for the hepatic accumulation of this metal in Wilson's disease.
Initially the copper is stored in the liver, when it accumulates beyond the cellular capacity for its
safe storage, hepatocellular injury may result. Toxic effects of excess copper include the
generation of free radicals, lipid
Treatment:
1. Diet - avoid liver, cabbage, pea and chocolate.
2. Cuprenil ( Penicillamine ) - 1 mg / day. 1 tab-250 mg.
Clinical forms :Neurological:
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1. Hypertony.
2. Involuntary movements (choleric / athetosis / myoclonic )
3. Tremor ( Intentional tremor as in Cerebellar diseases )
4.. Speech, Writing, Walk are affected.
5. Epileptic Seizures may appear (total / partial )
6. Psychic troubles
HEPATIC:
1. Cirrhosis.
2. LFT`s are positive.
11 Cerebellum:anatomy,physiology,etiology of cerebellum syndrome?
The cerebellum is placed in the posterior part of the brain, being separated from the Occipital
lobe by Tentorium & from the Brainstem by the 4th Ventricle. It has 2 hemispheres & a central
part called Vermis. Both Hemispheres & the Vermis are divided in many lobes. It is made up of
the gray matter (cortex) and white matter.
The cortex from gray matter has 3 layers: Granular layer, Purkinje Cell layer, Molecular layer.
The Cerebellum has 4 Cerebellar nuclei: Dentate, Fastigial, Emboliform, Globose nucleus.
The Cerebellum has 3 parts: Archaecerebellum, Palaecerebellum, Neocerebellum.
The Cerebellum has 3 Cerebellar Peduncles: Superior, Middle & Inferior.
The function of cerebellum is to ensures the co-ordination of movement, regulates the muscle
tone & equilibrium of the body.
Etiology of cerebellum syndrome:
1. Vascular disease: Ischemia & hemorrhage.
2. Tumor: Medulloblastoma in children
3. Trauma: Contusion & Hematoma.
4. Inflammatory: Encephalitis in Parotiditis or Mumps.
5. Intoxications: Drugs -Phenobarbitone. Alcohol intoxication.
6. Degenerative disease: Multiple Sclerosis.
7. Metabolic disease: Hartnup disease
8. Paraneoplastic cerebellar syndrome.
12 Semiology of cerebellum ataxia: troubles of muscular tone?
Ataxia: disturbance of co-ordination. The generalized ataxia with jerking movements of head,
arms, and legs, stiffening of the body, loss of balance, dizziness, blurred vision, dysarthria, &
diplopia.
These episodes may occur several times a month, may last seconds to minutes, & can be
precipitated by anxiety, emotional stress, fatigue, & sudden postural changes (kinesigenic
stimulation). Mild exercise, kinesigenic stimulation, and vestibular caloric stimulation may be
used to induce attacks.
13 Semiology of the Vestibular Syndrome: nystagmus, troubles of equilibrium?
Nystagmus: Involuntary movement of the eyes, rhythmic, bilateral & has 2 components:.
1. Rapid: is for correction.
2. Slow: shows the deviation of Vestibular lesion.
Nystagmus can be:
1. Horizontal. (Peripheral VS, Central VS in pons)
2. Vertical (Central VS in midbrain region)
3. Rotatory. (Central VS in medulla oblongata)
It can also appear in some intoxication (eq, alcohol), or in the paresis of CN III called paretic
Nystagmus. Bilateral nystagmus can appear in Amblyopia.
Troubles of equilibrium: Static Equlibrium troubles: evidentiated by Romberg`s test and of the
stretching of arms.
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The 2nd neuron: is placed in the posterior horn of the spinal cord and in the sensitive nuclei of
cranial nerves for thermal, pain and gross tactile sensitivity. For deep sensitivity the 2nd neuron is
placed in Gall and Burdach nuclei in medulla oblongata. The axons of these nuclei make the
sensitive tract:- spinothalamic tract (anterior and lateral) and medial lemniscus.
The 3rd neuron: is placed in the ventro-posterior thalamic nuclei.
3) Cortical Sensitive Area:
Are in the opposite parietal lobe in areas: 3, 2, 1, 5 and 7.
Areas 3, 2, 1 are placed in the posterior central gyrus. Here is the sensitive homunculus with
head downward and leg upward (same as motor homunculus). The representation of different
parts of the body is different after their importance in sensitivity. Representation of hands,
fingers and lips is larger than for the trunk.
Area 5 and 7 represents integrative sensitivity, which is a complex sensitivity that joins together
the superficial and deep sensitivity.
The integrative sensitivities are:
1. Stereognosia: ability to recognize the object by touching. Disorders is called Asterognosia.
2. Dermolexia: ability to recognize the number or letters written on the skin with eyes closed.
Disorders- adermolexia.
3. Topognosia: ability to recognize top of the place of touch.
4. Somatognosia: ability to recognize different parts of the body. Disorders- asomatognosia.
5. Nosognozia: ability to recognize the motor deficit. Disorders- anosognozia.
6. Nosodiaphoria: ability to recognize the disease. Disorders- anosodiaphoria.
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6.
7.
8.
18 The radicular sensitive syndrome, the brown seguard syndrome, the total spinal cord
sensitive syndrome, the sensitive syndrome of the anterior and lateral cordons of the spinal
cord(anterior & lateral spinothalamic tracts), and the sensitive syndrome of the posterior
cordon of spinal cord?
Sensitive Radicular Syndrome:
Appears when sensitive roots are affected. Typical distribution: in limbs- longitudinal and in
trunk- horizontal distribution.
Etiology:
1.
discopathy (disease of intra-vertibral disc)
2.
T.B
3.
cervical rib.
In the SRS, the pain is by activities (that intraspinal pressure as in coughing, sneezing) and
also by elongation maneuvers like in Laessec and Bonne (pain on external rotation means disease
of joint and pain on internal rotation mean nerve involvement). Another maneuver is Neriinability to pick up an object from ground without moving the legs.
Sensitive Spinal Syndrome:
Sensitivity disorders in contralateral side of the lesion because the sensitive tracts cross in the
spinal cord (SC).
In the posterior cordon disease of the SC, tabetic dissociation appears with loss of deep and
tactile sensitivity and preservation of the thermal and pain sensitivity.
When one half of the SC is affected we have Brown-Sequard Syndrome with the following
SYMPTOMS:
1.
disorders of pain and thermal sensitivity in contralateral side of the lesion.
2.
disorders of deep and tactile sensitivity in the same side of the lesion.
3.
pyramidal syndrome in the same side of lesion.
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a band of anesthesia for all sensitivity on the same side of the lesion.
atopognosia,
adermolexia,
astereognosia,
tactile in-attention (cant recognize touch with closed eyes when touched
bilaterally),
asomatognosia,
anosognosia,
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anosodiaphoria.
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-Heart pain
-Abdominal pain
-Hypertension
23B Occipital lobe, anatomy,semiology?
Anatomy: The O.L. is delimited to anterior part by posterior conventional sulcus and in
posterior part by O.pole.
The O.L. is crossed horizontally by the calcarine scisure (fissure) in 3 areas: 17, 18 and 19.
Area 17 is the end of visual pathway.
Area 18 and 19 surround area 17 and their importance lie in recognizing the shape and figures.
Damage of these areas give metamorphoses (change of size, shape and colour of object).
O.L. is supplied by posterior cerebral artery.
SEMIOLOGY:
1.
Troubles of visual field:
-Lateral homonymous hemianopsia
-Quadrantanopsia.
-Double homonymous hemianopsia with preservation of central vision
2.
Cortical cecity the exam of eye fundus is normal.
3.
Visual hallucinations may be simple (light) or complex (objects, faces, animals).
4.
Metamorphosis changes of shape and colour of objects.
5.
Visual agnosia the patient recognize the objects, images or faces and cannot localize
object in space.
Sometimes agnosia for written letters appear.
6.
BALINT syndrome incapacity to change the position of vision direction from an object to
another
object.
7.
Psychic troubles:
-memory deficits
-Amnesia
-Loss of topographic memory.
24 Aphasia, receptor or wernike aphasia, motor or broca aphasia: semiology, etiology?
Receptive aphasia (fluent): With receptive aphasia, the person can hear a voice or read the
print, but may not understand the meaning of the message. Oftentimes, someone with receptive
aphasia takes language literally. Their own speech may be disturbed because they do not
understand their own language.
Causes Aphasia
Aphasia is usually caused by a stroke or brain injury with damage to one or more parts of the
brain that deal with language. (According to the National Aphasia Association, about 25% to
40% of people who survive a stroke get aphasia.)
Aphasia may also be caused by a brain tumor, brain infection, or dementia such
as Alzheimer's disease. In some cases, aphasia is a symptom of epilepsy or other neurological
disorder.
Expressive aphasia (non-fluent ) broca:
With expressive aphasia, the person knows what he or she wants to say yet has difficulty
communicating it to others. It doesn't matter whether the person is trying to say or write what he
or she is trying to communicate.
Etiology: trauma to the brain, tumor, cerebral hemorrhage by extradural hematoma,
stroke.
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Cerebrovascular accidents and neck and head trauma are very common causes of spinal
accessory nerve malfunction. The muscles innervated may be weak unilaterally or bilaterally or
they may be atrophied or paralyzed.
28 Hypoglossal XII nerve: anatomy,semiology
It is a purely motor nerve, which supplies the somatic musculature of the tongue. It arises as a
series of rootlets which issue from the medulla between the pyramid and inferior olivary
complex. The nerve leaves the skull through the hypoglossal foramen and innervates the
genioglossus muscle, the styloglossus and hypoglossus.
Complete interruption of the nerve results in paralysis of one side of the tongue
The tongue curves slightly to the healthy side as it lies in the mouth, but on protrusion it
deviates to the affected side owing to the unopposed push of the healthy genioglossus muscle.
The denervated side becomes wrinkled and atrophied
Fasciculations and fibrillation can be seen.
29. Neuralgia the syndrome of the sensitive irritation, cervicobrachial neuralgia: symptoms
after the affected roots: C6, C7, C8.
One of the most common causes of neck, shoulder and arm pain is disc herniation in the lower
cervical region. The roots most commonly involved in cervical disc protrusion are the seventh
and the sixth. When the sixth cervical root is involved, the full syndrome is characterized by:
Pain at the trapezius ridge and tip of the shoulder, with radiation into the anterior upper part
of the arm, radial forearm, and often into the thumb; paresthesias and sensory impairment in the
same regions; tenderness in the area above the spine of the scapula and in the supraclavicular and
biceps region; weakness in flexion of the forearm; diminished to absent biceps and supinator
reflexes.
When the seventh cervical root is involved, the full syndrome is characterized by:
Pain is in the region of the shoulder blade, pectoral region and medial axilla, posterolateral
upper arm, dorsal forearm and elbow, index and middle fingers, or all the fingers; tenderness is
most pronounced in the medial aspect of the shoulder blade opposite the third to fourth thoracic
spinous processes, in the supraclavicular area and triceps region; paresthesias and sensory loss
are more evident in second and third digit or tips of all digit; weakness is found in extension of
the forearm and in the hand grip; the triceps reflex is diminished to absent, and the biceps and
supinator reflexes are preserved.
Compression of the eighth cervical root at C7-T1 may mimic an ulnar palsy. The pain is along
the medial side of the forearm and the sensory loss is in the distribution of the medial cutaneous
nerve of the forearm and ulnar nerve of the hand. The weakness involves the muscles supplied by
the ulnar nerve.
30. Sciatic neuralgia: etiology, symptoms.
Spondylosis
Spondylolisthesis
Vertebral fractures
Protusion of the lumbar intervertebral disc
The fully developed syndrome of prolapsed intervertebral lumbar disc consists of:
stiff, deformed spine
pain radiating into the thigh, calf and foot
some combination of paresthesia, weakness and reflex impairment.
Pain may be characteristically provoked by pressure over the L5 and S1 vertebral spines and
along the course of the sciatic nerve at the classic points of the Valleix (sciatic notch,
retrotrochanteric gutter, posterior surface of the thigh, head of the fibula).
Elongation of the nerve by straight-leg raising or flexing the leg at the hip and extending it at
the knee (Lasegue maneuver)
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With the patient standing, forward bending of the trunk will cause flexion of the knee on the
affected side (Neri sign).
31. Brachial plexus paresis: etiology, symptoms.
Brachial plexus is formed from the anterior and posterior divisions of cervical roots, 5, 6, 7, and
8, and the first thoracic nerve roots. The fifth and sixth cervical roots merge into the upper trunk,
the seventh root form the middle trunk and the eight cervical and first thoracic roots form the
lower trunk. Each trunk divides into an anterior and posterior division. The posterior divisions of
each trunk unite to form posterior cord of the plexus. The anterior divisions of lower trunk form
the medial cord.
Lesion of the whole plexus. The entire arm is paralyzed and hangs uselessly at the side; the
sensory loss is complete below a line extending from the shoulder downward and medially to the
middle third of the upper arm. Biceps, triceps, radial periostal, and finger reflexes are abolished.
The usual cause is vehicular trauma.
Complete interruption of the median nerve results an inability to pronate the forearm or flex
the hand in a radial direction, paralysis of flexion of the index finger and terminal phalanx of
the thumb, weakness of flexion of the remaining fingers, weakness of abduction and
opposition of the thumb and sensory impairment over the radial two-thirds of the palmary
aspect of the hand and the dorsum of the distal phalanges of the index and third fingers.
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third fingers, supplied by the median nerve, counteract the deformity. Sensory loss occurs over
the fifth finger, the ulnar aspect of the fourth finger, and the ulnar border of the palm.
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oxygenation of tissues. Untreated heart attacks may slow blood flow enough that blood may start
to clot and prevent the flow of blood to the brain or other major organs. Extremely low blood
pressure can also result from drug overdose and reactions to drugs. Therefore, brain ischemia can
result from events other than heart attacks.
Congenital heart defects may also cause brain ischemia due to the lack of appropriate artery
formation and connection. People with congenital heart defects may also be prone to blood clots.
Other pathological events that may result in brain ischemia include cardiorespiratory arrest,
stroke, and severe irreversible brain damage.
Recently, Moyamoya disease has also been identified as a potential cause for brain ischemia.
Moyamoya disease is an extremely rare cerebrovascular condition that limits blood circulation to
the brain, consequently leading to oxygen deprivation.
Pathophysiology
During brain ischemia, the brain cannot perform aerobic metabolism due to the loss of oxygen
and substrate. The brain is not able to switch to anaerobic metabolism and because it does not
have any long term energy stored the levels of adenosine triphosphate (ATP) drop rapidly and
approach zero within 4 minutes. In the absence of biochemical energy, cells begin to lose the
ability to maintain electrochemical gradients. Consequently, there is a massive influx of calcium
into the cytosol, a massive release of glutamate from synaptic vesicles, lipolysis, calpain
activation, and the arrest of protein synthesis.[14] Additionally, removal of metabolic wastes is
slowed. The interruption of blood flow to the brain for ten seconds results in the immediate loss
of consciousness. The interruption of blood flow for twenty seconds results in the stopping of
electrical activity. An area called a penumbra, may result, wherein neurons do not receive enough
blood to communicate, however do receive sufficient oxygenation to avoid cell death for a short
period of time.
Symptoms
The symptoms of brain ischemia reflect the anatomical region undergoing blood and oxygen
deprivation. Ischemia within the arteries branching from the internal carotid artery may result in
symptoms such as blindness in one eye, weakness in one arm or leg, or weakness in one entire
side of the body. Ischemia within the arteries branching from the vertebral arteries in the back of
the brain may result in symptoms such as dizziness, vertigo, double vision, or weakness on both
sides of the body[citation needed]. Other symptoms include difficulty speaking, slurred speech, and the
loss of coordination.[9] The symptoms of brain ischemia range from mild to severe. Further,
symptoms can last from a few seconds to a few minutes or extended periods of time. If the brain
becomes damaged irreversibly and infarction occurs, the symptoms may be permanent.
Similar to cerebral hypoxia, severe or prolonged brain ischemia will result in unconsciousness,
brain damage or death, mediated by the ischemic cascade.
Multiple cerebral ischemic events may lead to subcortical ischemic depression, also known as
vascular depression. This condition is most commonly seen in elderly depressed patients. [citation
needed]
Late onset depression is increasingly seen as a distinct sub-type of depression, and can be
detected with an MR
41. The transient ischemic attack in carotidian system and vertebrobasilar system:
semiology, differential diagnosis.
Symptoms of transient ischemic attacks in the CAROTIDIAN system are:
a. Hemiparesis.
b. Transient cecity in one eye.
c. Lateral homonymous hemianopsia.
d. Aphasia.
e. Headache.
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f. Confusion.
Symptoms of transient ischemic attacks in the VERTEBRO-BASILAR system are:
a. Vertigo accompanied by:
Dyplopia.
Facial paresis.
Deafness.
Tinnitus.
Troubles of swallowing.
Hiccup.
Move the cursor along the course of the internal carotid artery and its branches to identify individual segments.
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Move the cursor along the course of the internal carotid artery to identify individual segments.
The internal carotid artery is major paired artery, one on each side of the head and neck, in
human anatomy. They arise from the common carotid arteries where these bifurcate into the
internal and external carotid artery; the internal carotid artery supplies the brain, while the
external carotid nourishes other portions of the head, such as face, scalp, skull, and meninges.
The segments of the internal carotid artery are as follows:
Cervical segment, or C1, identical to the commonly used Cervical portion
Petrous segment, or C2
Lacerum segment, or C3
o C2 and C3 compose the commonly termed Petrous portion
Cavernous segment, or C4, almost identical to the commonly used Cavernous portion
Clinoid segment, or C5. This segment is not identified in some earlier classifications,
and lies between the commonly used Cavernous portion and Cerebral or Supraclinoid
portion
Ophthalmic, or supraclinoid segment, or C6
Communicating, or terminal segment, or C7
C6 and C7 together constitute the commonly used Cerebral or Supraclinoid portion
Mnemonic for Branches in Skull: Please Let Children Consume Our Candy
first letter for each branch in order.
1.
2.
3.
4.
5.
6.
7.
1.
2.
3.
4.
5.
6.
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Midbrain.
Thalamus.
Caudate nucleus.
Corpus calosum.
Ischemia of BA is rare but severe. The SYMPTOMS are:
1.
Tetraplegia.
2.
Alternate symptoms ( ipsilateral cranial neve paresis and contralateral motor
deficit WEBER syndrome ; paresis of 7th nerve and pyramidal region contralaterally
MILLARD GUBLER syndrome (in pons).
3.
Troubles of sensibility in face or in contralateral of body.
4.
Cerebellum troubles (ataxia, equilibrium troubles, dismetria).
5.
Drop attacks (transient loss of muscular tonus) due to reticulate substance
in pons.
6.
Involuntary movements.
7.
Paresis of cranial nerves.
8.
Akinetic mutism.
9.
Trouble of conscience (coma, somnolence).
10.
Cortical cecity.
11.
Visual hallucinations.
12.
Visual agnosia.
13.
Psychic troubles.
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PATHOPHYSIOLOGY:
The walls of BVs suffer a hyaline degeneration cause of HT. The elastic tissue is destroyedand
microscopic aneurysms appear, predominantly in the striated nuclei and in white matter of
brain.The rupture of microscopic aneurysm give the CH.
SYMPTOMS:
The onset of CH is abrupt, with severe headache and coma.
Hours or days before the CH, the patient may have:
Headache.
Vomiting.
Paresthesia.
Vertigo.
Usually the CH appears in the middle of days after muscular or sexual effort, after cough or
sneezing.
The examination of patient reveals:
Coma.
Troubles of breathing.
Reddish color of face.
Neck rigidity.
Deviation of eyes and head on the opposite side of motor deficit.
Anizocoria.
Bilateral babinski sign.
Vegetative troubles (increased temperature, increased pupil size, increased BP.)
Digestive hemorrhage may appear when hypothalamus is affected.
The eye fundus revels papilloedema and small hemorrhages in retina.
In lumbar puncture, in 80% case, the CSF is red.In 20% is clear. Sometimes the blood appears in
CSF only on mocroscopic examination.
47. Subarachnoid hemorrhage: etiology, clinical features.
(MOTOR DEFICIT IS ABSENT)
The frequency is 3-8 % of all acute strokes. The onset is brisk with severe headaches, vomiting ,
photophobia, troubles of conscience 7 increase of temperature > 38.
SYMPTOMS:
The examination of the patient with SAH reveals:
Neck rigidity.
Seizures of general hypertony.
KERNIG and BRUDZINSKY tests are + ve.
Focal neurological signs are absent.
Babinski sign.
The sp cord is red. The eye fundus in 30% of cases reveals papilloedema and small hemorrhage
of retina.
The immediate prognosis is good.
The distant prognosis is not good because the SAH can relapse.
48. Cerebral venous thrombosis; thrombosis of cavernous sinus, thrombosis of lateral sinus,
thrombosis of longitudinal superior sinus: semiology, treatment.
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Edema of eyelids
Fever
Neck rigidity
Paresis of following nerves 3,4,5,6
Epileptic seizures
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Surgery
If the TIA affects an area supplied by the carotid arteries, an ultrasound (TCD) scan may
demonstrate carotid stenosis. For people with a greater than 70% stenosis within the carotid
artery, removal of atherosclerotic plaque by surgery, specifically a carotid endarterectomy, may
be recommended. The blood vessel is opened up and the plaque is removed. The carotid may be
replaced with a vessel retrieved from the lower leg or foot. The procedure is not technically
difficult but carries the potential complication of inducing a stroke. A stroke can occur during
surgery or after the procedure. The chance of a stroke ranges from 14 percent.
Some patients may also be given modified-release dipyridamole or clopidogrel.
Medication
The use of anti-coagulant medications, heparin and warfarin, or anti-platelet medications such as
aspirin may be warranted. Antiplatelet drugs prevent platelets from agglutinating or sticking to
each other, hence the term "blood thinner." The initial treatment is aspirin, second line is
clopidogrel (PLAVIX), third line is ticlopidine. If TIA is recurrent after aspirin treatment, the
combination of aspirin and dipyridamole is needed (Aggrenox).
Thinning the blood helps to ensure that small particles do not form and travel to the brain. These
drugs require frequent monitoring. These drugs also have side effects such as easy bruising and
bleeding from mild trauma.
An electrocardiogram (ECG) may show atrial fibrillation, a common cause of TIAs, or other
arrhythmias that may cause embolisation to the brain. An echocardiogram is useful in detecting
thrombus within the heart chambers. Such patients benefit from anticoagulation.
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CLINICAL FEATURES:
Duchenne
age of onset: infancy or early childhood
pattern of muscular involvement: pelvifemural
special features: hypertrophy-pdeudohypertrophy, cardiac involvement, mental
retardation
CK level: high
Inheritance: X-linked recessive
Becker
age of onset: childhood, adolescence or early adulthood
pattern of muscular involvement: pelvifemural
special features: cardiac involvement, mentation normal
CK level: moderate
Inheritance: X-linked recessive
Emery-Dreifuss
age of onset: childhood, adolescence
pattern of muscular involvement: humeroperoneal
special features: contractures posterior neck and biceps muscle
CK level: moderate
Inheritance: X-linked recessive
Landouzy-Dejerine
age of onset: late childhood, adolescence
pattern of muscular involvement: facioscapulohumeral
special features: cardiac normal, mentation normal
CK level: slight to moderate
Inheritance: dominant
Limb girdle
age of onset: childhood, adolescence, sometimes adulthood
pattern of muscular involvement: pectoral or pelvic both
special features: cardiac normal, mentation normal
CK level: slight to moderate
Inheritance: variable recessive or dominant
Myotonic Steinert
age of onset: infancy, childhood, adulthood
pattern of muscular involvement: ocular, facial, sternomastoid, forearm, peroneal
special features: testicular atrophy
CK level: slight to normal
Inheritance: dominant
Congenital:
age of onset: birth, infancy
pattern of muscular involvement: pectoral and pelvic girdles, or diffuse
special features: mentation retardation, artrogryposis
CK level: slight to moderate
Inheritance: dominant or recessive
52. Duchenne's hypertrophic form: positive diagnosis, differential diagnosis, treatment.
Positive diagnosis:
In young children appear an indisposition to walk or run, increasing dificulty in
walking, running and climbing stairs, became ever-more obvious as time passes
The iliopsoas, quadriceps and gluteal muscles are the first to be affected
Weakness of abdominal and paravertebral muscles accounts for the lordotic posture
and protuberant abdomen
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To rise from sitting position patients first flex their trunk at the hips, put their hands
on the knees, and push their trunk upward by working the hands up the thighs (Gowers sign)
the tendon reflexes are lost as muscle fibers disappear
ecg: prominent R waves in the right precordial leads
death is the usual results from respiratory weakness and pulmonary infections, and
sometimes cardiac decompensation
Differential diagnosis:
- acquired myopaties: polimiositis, thyroid, steroid associated, alcoholic
another types of muscle dystrophies ( limb girdle, myotonic dystrophies, etc)
myasthenia gravis
Treatment:
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the paresis begins in the legs, thighs, and lower back and spread to the forearms and
shoulders
1.
2.
3.
-
CLINICAL FEATURES:
a febrile illness or begin infection may precede the muscle weakness
patient becames aware of a painless weakness of the proximal limb muscles
the muscle are usually not tender, and atrophy and reduction in tendon reflexes are
not so pronounced
EMG: typical ,,myopathic pattern, many abnormaly brief action potentials of low
voltage and, in addition, numerous fibrillation potentials and salvos of pseudomyotonic activity
Treatment:
Prednisone, 60 mg per day
acetylsalicylic acid 0,6 every 4 h
physiotherapy
56. Myasthenia Gravis: Pathophysiology, anatomopathology, clinical aspects.
the autoimmune disturbance affecting the neuromuscular junction localized to the
skeletal muscle endplates
the changes in the postsynaptic membranes (endplates) are thought to result from the
presence of humoral antibodies that bind to the nicotinic acetylcholine receptors, thus reducing
the number of available receptor site for acetylcholine
there is no sign of central or peripheral nervous system involvement
the most frequently affected muscles are those that control eye movements, chewing,
swallowing, speech, breathing and head control
80% of mg patients have cellular changes in the thymus gland
thymectomy increases the rate of remission among the patient with MG
- onset: is usually insidious and progresses slowly
- weakness of muscles
- extraocular muscle involvement: diplopia
inability to chew or swallow
weakness of voice
breathing difficulties
difficulty in holding the head up
Objective assessment data:
ptosis
difficulty in smiling
nasal and dysarthric speech
57. Myasthenia Gravis: Positive diagnosis, differential diagnosis, treatment.
Diagnosis is determined by history, clinical manifestations and observing the individual-s
response to neostigmine or edrophonium. Each of these anticholinesterase drugs causes a
dramatic improvement in muscle strength in the MG patient.
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Differential diagnosis:
neurasthenic patients
other myopathies
oftalmoplegia of thyreoxicosis
Treatment:
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Claude syndrome:
Site: tegmentum of midbrain
Cranial nerve involved: III
Tracts and nuclei involved: red nucleus and brachium conjunctivum
Signs: oculomotor palsy with contralateral cerebellar ataxia and tremor
Usual cause: vascular occlusion; tumor; aneurysm.
Benedikt syndrome:
Site: tegmentum of midbrain
Cranial nerve involved: III
Tracts and nuclei involved: red nucleus and brachium conjunctivum, corticospinal tract
Signs: oculomotor palsy with contralateral cerebellar ataxia and tremor and corticospinal signs
Usual cause: softening; tumor; tuberculoma, hemorrhage
Parinaud syndrome:
Site: dorsal of midbrain
Tracts and nuclei involved: supranuclear mechanism for upward gaze and other structures in
periapqueductal gray matter
Signs: paralysis of upward gaze and accommodation fixed pupils
Usual cause: pinealoma, hydrocephalus and other lesion of dorsal midbrain
63. Multiple sclerosis: etiology and symptoms
Most likely MS occurs as a result of some combination of genetic, environmental and infectious
factors, and possibly other factors like vascular problems.
Symptoms of MS usually appear in episodic acute periods of worsening (called relapses,
exacerbations, bouts, attacks, or "flare-ups"), in a gradually progressive deterioration of
neurologic function, or in a combination of both. Multiple sclerosis relapses are often
unpredictable, occurring without warning and without obvious inciting factors with a rate rarely
above one and a half per year. Some attacks, however, are preceded by common triggers.
Relapses occur more frequently during spring and summer. Viral infections such as the common
cold, influenza, or gastroenteritis increase the risk of relapse. Stress may also trigger an attack.
Pregnancy affects the susceptibility to relapse, with a lower relapse rate at each trimester of
gestation. During the first few months after delivery, however, the risk of relapse is increased.
Overall, pregnancy does not seem to influence long-term disability. Many potential triggers have
been examined and found not to influence MS relapse rates. There is no evidence that
vaccination and breast feeding, physical trauma, or Uhthoff's phenomenon are relapse triggers.
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1. PRODROMAL STAGE: This is a couple of days to hours before the onset of the epilepsy. In it
the patient will complain of the following:
Headaches.
Depresion.
Irritability.
Anxiety.
2. Aura Stage: This is the stage immediately before the onset of the epileptic attack. About
50% of the patient will always feel the same symptoms before an attack.
An unpleasant odour.
Pain in the stomach.
An unpleasant taste.
Cinterating spot in his eye.
During the seizures, the patient suddenly loses his conscience and falls.
The seizure has 2 phases:
Tonic phase.
Clonic phases.
3. Tonic Stage: This is the stage during the epileptic attack. During the seizure , the patient
suddenly loses his consciousness and falls. He will have generalised tonic contractions of the
body. Because of the contraction of the respiratory muscles, the patient may cry. The head falls,
the legs remain in extension and slight internal rotation, while the arms are semiflexed and
slightly abducted. The jaw is closed and the tongue may be caught between the teeth. The eyes
may be open or closed, and may sometimes deviate to one side. The pupils are contracted and
miotic, and may be deviated because of the contraction of the abductor muscles. The patient may
also present incontinence of urine and faeces. Vegetative disorders, such as cyanosis, pallor of
the face, and salivation (with blood) may be present. This stage lasts for about 1 1 minutes.
The EEG will show discharges of sharp waves in all the derivations.
4. Clonic Stage: The patient has rapid and symmetric contractions of both arms and legs. The
head is jerking and the breathing is noisy. The corneal reflex and the papillary light reflex are
absent, while the tendon reflexes are decreased. The Babinski sign may be positive. This stage
lasts for approximately 40- 80 seconds. The EEG will show slow waves with high amplitude.
5. Postictal Stage: The patient is in deep coma, with generalised hypotony. The breathing is
noisy. Later on, the patient falls into a deep sleep, with regular breathing, after which, he
recovers consciousness, but is in a confused state of mind. He will complain of headaches,
pain in all the muscles, and amnesia of seizures. Sometimes, after the seizure, transitory
hemiparesis and ataxia may be present. The EEG will show the amplitude to decrease until it
reaches an isoelectric line. Then, it will slowly start to show the normal aspect.
In the clonic phase, slow waves with high amplitude appear.
In the postictal phase, the EEG course decreases down to a line (silentium) and then slow course
appears and slowly rises to normal. B/w seizures, on a normal course, sharp and slow waves
with high amplitude appears.
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70. Epilepsy: treatment, treatment of partial seizures, treatment of Grand Mall epilepsy,
treatment of Petit Mall epilepsy.
TREATMENT:
Identifiable causes of seizures should be eliminated whenever possible- a brain tumor or chronic
alcoholism.
Before treatment is begun, the physician must define the type of seizure that is present.
The patient should take the prescribed medication regularly in the dose indicated and keep a
protocol of any seizures that occur. Medication should be introduced at a low dose, which is
gradually increased to a typically effective dose. A change to a different medication should be
made only if the medication currently given was found ineffective or is not tolerated by the
patient.
GRAND MAL EPILEPSY:
1. Phenytoin (hidantoin): The dosage is 6-8 mg/kg BW/day, divided into 1-2 doses. A tablet has
100 mg, so an adult dose is about 2-4 tablets per day.
Secondary effects:
Atacsia.
Dysarthria.
Nystagmus.
Skin eruption.
Thrombocytopenia.
Hepatic troubles.
Gingival hyperplasia.
2. Primidona (dezoxiphenobarbital): The dosage is 5-30 mg/kg BW/day, divided into 1-2
doses. A tablet has 250 mg, so the adult dose will be 3 tablets per day.
3. Phenobarbital (Gardenal): The dosage is 2-5 mg/kg BW/day, divided into 1-2 doses. The
average dose for a child is 15mg, while that for an adult is 100 mg. The adult dose is about 1-3
tablets /day.
Secondary effects:
Vertigo.
Somnolence.
Psychic troubles.
Skin troubles.
Hepatic troubles.
Agranulocytosis.
4. Depakene (Valproic acid): The dosage is 25-30 mg /kg /day. The drug is available as 250
mg capsules.
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PETIT MAL:
1. Trepal: Also known as Trimetadion or Absentol. The dosage is 20 mg/kg/day. Each tablet
has 150 mg. Therefore, the adult dosage is 900- 1200 mg/day, or 6-8 tablets, divided into 2
doses.
2. Suxilep: The dosage is 20 mg/kg day. It is available in 250 mg tablets, so the adult dose is 38 tab/day.
3. Depakene (sodium valporate): Adult dosage is 900 mg/day ( 3 tab/day) a child dosage is
450 mg/day.
Each tablet is 300mg.
4. Clonazepam (rivotril): The dosage is 0,5 mg /kg/day. Each tablet contains 0,5 mg/2mg and
25 mg in phials. The adult dosage is 2-3 tab/day in 3 doses.
5. Ederen (acetazolamide): The dosage is 200-2000 mg/day. Each tablet has 250 mg. The
adult dosage is 1-10 tab. / day in 3-4 doses.
PARTIAL EPILEPSY:
1. Finlepsin (Carbamazepin): The dosage is 600-1200 mg/day. Each tablet has 200 mg. The
adult dosage is 3-6 tab./day.
2. Suxilep: as above.
3. Diazepam (valium): The dosage is 1mg /kg/day. Each tablet contains 2and10 mg , each phial,
10 mg.
The adult is 1-3 tab./day or 1-10 phials/day.
4. Clonazepam: as above.
5. Depakene: as above.
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