Neurology Flashcards
What is the most commonly identified precipitant of Guillain Barre Syndrome (GBS)?
Campylobacter (30%)
What are other infectious precipitants can cause GBS?
- CMV
- EBV
- Mycoplasma pneumoniae
- Influenza-like illnesses
What is Niemann-Pick disease?
Sphingomyelin lipidosis
- lysosomal enzyme def. of sphingomyelinase
- HSM
- Regression
- Macular degeneration w/ cherry red spots (25%)
- Hypotonia
- Areflexia
- Delayed nerve conduction
- Brain atrophy with volume loss
What is Gaucher disease?
Glucosylceramide lipidosis - enzyme defect in B-glucocerebrosidase
Common in Ashkenazi Jews
What is Krabbe disease?
Galactosylceramide lipidosis aka globoid cell leukodystrophy, 2 phenotypes (early 3-6m, later infancy)
What is metachromic leukodystrophy?
Lipidosis occurs due to deficiency of lysosomal enzyme arylsulfatase A (cerebroside sulfatase)
What are the clinical features metachromic leukodystrophy?
Symptoms usu. develop in first 2y, but may present @ 4-5yo
- Gait dysfunction
- Ataxia
- Weakness
- Neuropathy
- Muscle stretch reflex absent
- Spasticity
- Affects intellect
- Optic atrophy
- Seizures
- Cherry red spots
What is the inheritance pattern of Krabbe disease?
AR lysosomal defect
What are the clinical features of Krabbe disease?
- Galactocerebrocidase - WBC in serum & amniotic fluid
- Irritability
- Fever of unknown origin
- Rigidity leading to feeding problems
- Vision and hearing loss
- Mortality by age 2
What is the inheritance pattern of Gaucher disease?
AR
What are the clinical features of Gaucher disease?
- Accumulation of glucocerbrosides in brain, liver, spleen, bone marrow
- HSM
- Hyperextended posture
- Bone marrow suppression
- Bone pain
What is the inheritance pattern gangliosides GM-1?
AR
What are the clinical characteristics GM-1 infant type?
- Anorexia
- Poor suck
- FTT
- Dev’t delay
- Generalized seizure
- Spastic quadriplegia
- Coarse facial features
- Edema of hands/feet
- Gum hypertrophy
- HSM
- Blindness
- Deafness
- Cherry red spot
- Mortality by 2-3yo
What are the clinical characteristics of GM-1 juvenile type (presents @ 1yo)?
- Incoordination
- Weakness
- Ataxia
- Language regression
- Convulsions
- Spasticity
- Decerebrate rigidity
- Blindness
- Mortality by 10yo
What are the clinical characteristics of GM-1 adult type?
- Slow progressive spasticity
- Ataxia
- Dysarthria
- Gradual loss of cognitive function
What are the clinical characteristics of GM-2 Tay Sachs disease?
- Hyperacusis
- Increased startle response
- Developmental delay
- Poor vision
- Cherry red spot
- Myoclonic seizures
- Death by 3yo
What is the inheritance pattern of Tay Sachs?
AR
What is adrenoleukodystrophy?
Peroxisomal disorder
What is the inheritance pattern of adrenoleukodystrophy?
X-linked
What are the clinical characteristics of adrenoleukodystrophy?
- Presents males 4-8yo
- Progressive deterioration in schoolwork
- Hearing/speech problems
- Seizures
- White matter changes on MRI
- Addison’s (primary adrenal insufficiency)
What is MELAS?
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
What is Werdnig-Hoffman disease?
SMA Type 1
What is a 6th nerve palsy?
Dysfunction of abducens nerve and contraction of the lateral rectus muscle
- Esotropia
- Dipopia
What are the most common causes of 6th nerve palsy?
- Tumors (45%) esp. posterior fossa medulloblastoma, brainstem glioma
- Elevated ICP (15%)
- Trauma (12%)
- Congenital (11%)
- Inflammatory (7%)
- Idiopathic (5%)
What is the characteristic EEG findings for infantile spasms?
Hypsarrhythmia
What is the characteristic EEG findings for absence seizures?
3Hz generalized spike and wave discharges
What is the characteristic EEG findings for benign rolandic epilepsy?
Centrotemporal spikes
Why is diazepam not commonly used in neonates?
Decreased liver metabolism
Which is higher in neonates versus adolescents?
volume of liquid distribution
When does Lennox-Gastaut present?
3-10yo
What are the clinical characteristics of Lennox-Gastaut?
- Severe impairment
- Atypical absence seizures with head atonia and myoclonus during seizures
- Poor prognosis
What is the characteristic EEG finding for Lennox-Gastaut?
1-2Hz spike and slow wave discharges
When does Landau-Kleffner syndrome typically present?
3-6yo, resolves by 8-12yo
What are the clinical characteristics of Landau-Kleffner?
- Regression in language comprehension and expressive language (verbal auditory agnosia)
- 80% eventually exhibit clinical seizures
How does septra effect phenytoin?
It causes decreased metabolism and increases serum levels of phenytoin
What is first line therapy for absence seizures?
Ethosuximide
What is first line therapy for infantile spasms?
ACTH
Second: Vigabatrin
Which antiepileptic causes hepatotoxicity, pancreatitis, and thrombocytopenia?
Valproic acid
What is the most common posterior fossa tumor?
Medulloblastoma 35-40%
Cerebellar astrocytoma 35-40%
Brainstem glioma 10-15%
Ependymoma 10-15%
