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Pediatrics > Neurology > Flashcards

Neurology Flashcards

0
Q

Dandy-Walker malformation

A

1-Cystic expansion of fourth ventricle
2-Agenesis of posterior cerebellar vermis and corpus callosum
3-Cerebellar ataxia

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1
Q

Deference between Chiari malformation type 1 and 2

A

Herniation of cerebellum from foramen magnum

-type 1 : in adolescence and no hydrocephalus versus type 2

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2
Q

Febrile seizure

A

1-9 months to 5 years
2-Family history
3-Generalised < 10 minuts , no significant postictal period

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3
Q

Partial seizure ( simple )

A

1-Focal : face and neck , 10-20 seconds
2-Have aura , no postictal period
3-EEG : spike and sharp waves

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4
Q

Partial seizure ( complex )

A

1-Some impaired consciousness
2-Automatism
3-EEG: anterior temporal lobe sharp waves
4-Treatment : carbamazepine

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5
Q

Generalizes seizure ( absent )

A

1-Sudden cessation motor activity, speech , staring
2-More in girls > 5 years
3-No aura no postictal period
4-treatment : Ethosuximide

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6
Q

Generalized seizure ( tonic- clonic)

A

1-Aura
2-LOC, eyes back
3-Tongue bite , bladder control loss
4-Treatment : phenobarbital , phenytoin

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7
Q

Generalized seizure ( Myoclonic)

A 
1-Repetitive symmetric muscle contraction and loss of body tone 
Benign Myoclonous of infancy :
1-Cluster of neck , trunk , extremities 
2-EEG normal 
3-Goes away after age 2 
4-During sleep
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8
Q

Infantile Spasms

A

1-Symetric contraction of neck and trunk
2-4-8 months
2-Cryptogenic / symptomatic
4-EEG : hyperarrhythmia
5-+ Corticotropin releasing hormon , neuronal hyperexcitability
6-Treatment : ACTH

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9
Q

Neurofibromatosis

Genetic

A

AD
NF-1: Von Recklinghausen
( chromosome17)
NF-2: chromosome 22

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10
Q

Neurofibromatosis ( NF-1)

A 
•Need 2 of the following:
1-_>6 cafe-au-lait( 5mm prepubertal
, 15mm postpubertal)
2-Axillary/inguinal freckling
3-> 2 iris Lisch nodules
4-> 2 neurofibromas, 
5-Osseous lesion - Scoliosis , sphenoid dysphasia 
6-Optic glioma
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11
Q

Neurofibromatosis ( NF-2 )

A 
•Need one of the following : 
1-Bilateral acoustic neuroma
2-Parent, sibling, child with NF-2 
   And  unilateral 8th-nerve mass or two of the following: 
   -Neurofibroma
   -Meningioma
   -Glioma
   -Schwanoma
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12
Q

NF-2

Presentation

A 
1-Hearing loss
2-Facial weakness
3-Headache 
4-Unsteady gait
5-Fewer skin finding 
6-CNS Tumors
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13
Q

Tuberous Sclerosis

A 
•Infancy
1-Infantile spasm and skin lesion
Ash leaf macule
2-CT scan - calcified tubers(تلافيف)
•Childhood:
1-Generalized seizure and skin lesion •Sebaceous adenoma 
          •Shagreen patch
2-Subungual fibromata
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14
Q

Cerebral palsy

A

Impaired ability of voluntary muscles

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15
Q

Neurodegenerative disorder

Friedrich Ataxia

A

Progressive deterioration of Neurologic function
1-Gene - frataxin
2-AR
3-Ataxia befor 10 , weakness of hands and feet , lose of DTR
4-Degeneration of posterior columns: loss of position and vibration
5-Explosive dysarthric speech
6-Refractory hypertrophic cardiomyopathy : death .

16
Q

Wilson disease

A 
1-Copper metabolism 
2-AR
3-Liver and CNS
Liver symptoms first then CNS 
  - Dystonia, tremor, basal ganglia problems
  -Kayser-Fleischer rings
17
Q

Wilson

Diagnosis

A

1-Best screen : serum Ceruplasmin
( decrease)
2-Increased urinary Cu
3-Confirm with liver biopsy

18
Q

Wilson

Treatment

A

1-Penicillamine chelation

2-Liver transplant

19
Q

Sphingolipidosis

Metachromatic Leukodystrophy

A

1-ArylsulfataseA: accumulation of cereboside sulfate in myelin sheath 2-AR
3-Cresyl violet: metachromatic stain
4-Gait disturbance at 1-2 years
5-Hypotonia, no DTR, ataxia
6-Within one year can’t sit feed swallow and death

20
Q

Sphingolipidosis

Adrenoleukodystrophy

A 
1-X-linked R
2-CNS degeneration with adrenal cortical insufficiency 
3-Symptoms 5-15 years 
4-Behavioral changes 
5-Seizure , Gait abnormalities 
6-Spasticity and ataxia
21
Q

Sphingolipidosis

Tay-Sachs

A 
1-Deficient B-hexoaminidase, 
2-Normal until 6 months then lag and lose milestones 
3-Seizure , hypotonia , blindess 
4-Cherry red macula( retina ) 
5-AR
22
Q

Purine Metabolism

Lesch-Nyhan

A 
1-X-linked 
2-Uric acid 
3-Self-Mutilation and Dystonia 
4-Gouty arthritis 
5-Analyze HPRT gene
23
Q

Spinal muscle Atrophy

A 
1-Degenerative disease of motor units
2-Denervation of muscles : atrophy
3-Types: 1-Werding-Hoffman: sever infantile , 2-Late infancy slower
               3-Chronic juvenile 
( Kugelberg-Welander)
4-AR
24
Q

SMA

Presentation

A 
1-Floppy baby 
2-Feeding difficulty 
3-Tongue and fingers fasciculation
4-Absent DTR
5-Death by 3 years 
6-Intelligence is normal
7-Heart not effected
25
Q

SMA

Diagnosis

A

Best test

Molecular genetic marker in blood for SMA gene

26
Q

Myasthenia Gravis

A

Immune-Mediated neuronal blockade secondary to circulating receptor binding antibodies
1-Ptosis and facial muscle weakness and floppy baby
2-Dysphasia ,
3-Rapid fatigue , late in the day
Diagnosis:
•EMG: giving cholinesterase inhibitor( edrophonium)

27
Q

Guillain Barre Syndrome

A 
1-10 days after enteral and pulmonary infection 
2-Ascending paralysis : 
Symmetric , Gradual 
Tenderness, pain, Parasthrsias, 
Lose DTR
3-Spontaneous recovery 2-3 weeks
28
Q

Guillain-Barre

Diagnosis

A

Increased CSF protein

Rapid IVIG 2-5 days

29
Q

Duchenne Muscular Dystrophy

A 
1-X-Linked R
2-Poor head control 
3-Degeneration and death of muscle fibers
4-Gower sign 
5-Calf psudohyertrophy
6-Cardiomyopathy 
7-Scoliosis 
8-Best test : molecular genetic diagnosis 
9-CPK: 15,000-35,000
30
Q

Acute Disseminated Encrphalomyelitis

A 
1-Autoimmune-demyelinating disease 
2-Children > 10 years 
3-Follow many types of infection 
Viral 
4-No progression once identified
31
Q

Homocystinuria

A 
1-AR
2-(-) Cystathionine-B-Synthase, B12 , folate
3-Poor growth, mental retardation 
4-Marfanoid feature 
5-Thromboembolic phenomena: 
Pulmonary and CNS vasculature: 
6-Acute infantile Hemiplegia
32
Q

Premature closing of anterior phontanel

A

1-Scaphocephaly
2-Premature fusion of single suture: no ICP or hydrocephalus
3-Consultation with a neurosurgeon

33
Q

Acute infantile Hemiplegia

A

1-Sudden onset of hemisyndrome
2-Eye looking away from paralyzed side to the lesion side
3-Thromboembolic occlusion of the middle cerebral artery

34
Q

Nieman-Pick( A)

A 
1-(-)Sphingomyelinase
2-Normal at birth then at first 6 months
3-Hepatospleenomegaly 
4-Lymphadenopathy 
5-Psychomotor retardation
35
Q

Infantile Gaucher disease

A 
1-(-)B-glucosidase
2-Increased tone 
3-Organomegaly
4-Failure to thrive 
5-Psychomotor regression
36
Q

Brain Tumor

A

1-Headache short time
2-Clinical findings
3-Change in Behavioral and school performance

37
Q

Pontine glioma

A 
1-6 years 
2-Subacute 
3-Cranial nerve abnormality( 7nerv) 
4-Unsteady gait secondary to spasticity 
5-Behavioral change
38
Q

Fabry disease

A

1-(-)a-Galactosidase
2-Older children
3-Acroparesthesia
4-Intermittent painfull crises

Pediatrics (6 decks)

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