Neuro Flashcards
Most common cause of status epilepticus
Prolonged febrile seizure (23-30%)
Acute symptomatic (eg CNS infection, AE drug overdose or non-adherence, metabolic derangement) 17-52% for whole category
Remote (cerebral migration disorders, dysgenesis, hie, neurodegenerative disorder) 5-19%
CPS statement in status epilepticus
Leukodystrophy history
history of loss of milestones or intellectual decline, gait disorder, signs of spasticity
most common leukodystrophy
adenoleukodystrophy: X-linked, presents age 5-8 years with cognitive impairment, spasticity and seizures
elevation of VLCFA accumulation
MRI in ALD
demyelination in occipital region that progresses anteriorly
Leukodystrophy + macrocephaly
Canavan disease (spongy deterioration of the cerebral white matter) AR in ashk jew Alexander disease
tay sachs disease
lysosomal storage disease - loss of milestones, macrocephaly, cherry red spots
MELAS
Mitochondrial encephalopathy lactic acidosis and stroke-like episodes
MERRF
myoclonic epilepsy with ragged-red fibers
Lesch-Nyhan syndrome
disorder of purine metabolism
hyperuricemia, spasticity, choreoathetosis, self-injurious behaviour
X-linked, mutation in the enzyme HGPRT
Wilson disease
defet in copper transportating protein causing liver cirrhosis and depostis of copper in basal ganglia –> EPS symptoms (dystonia and chorea). AR inheritence. Low ceruloplamin, high Cu
Menkes disease
defect in Cu transport causing deficiencies in Cu-containing enzymes –> grey matter degeneration, seizures and kinky hair. low serum Cu
Rett syndrome mutation
MeCP2
syndromes associated with craniosynostosis
apert, crouzon, pfeiffer
classifications of CP
spastic
dyskinetic (dystonic or choreoathetoid)
ataxic-hypotoic
Duane syndrome
Failure of normal development of the abducens nerve (CN6) –> LR muscle, impaired abduction of the eye
Moebius syndrome
bifacial weakness and abnormal eye movements from abnormal development of CN nuclei (6 and 7 usually)
AED for partial seizures
carbamazepine, oxcarbazepine
AED for generalized seizures
VPA, Lamotrigine, topiramate, levetiracetam
Lamotrigine indications and side effects
Generalized and absence
Interacts with VPA, so use low dose
SJS - increase dose slowly
Topiramate indications and side effects
Generalized and partial
Acute angle closure glaucoma, sweating, cognitive dulling, weight LOSS
Phenobarbital indications and side effects
neonatal seizures
cognitive effects, transition to different AED before 12 months
Phenytoin side effects
cumulative toxicity - cerebellar atrophy
Gingival hypertrophy, fetal hydantoin syndrome
VPA indications and side effects
Generalized with spike wave appearance, absence
–> mood stabilizer
liver failure/hepatitis, pancreatitis, hyperactivity, thrombocytopenia, rash, increase ammonia, weight GAIN, teratogenic
Carbamazepine indications and side effects
partial, Rolandic
Worsens generalized sz, autometabolises so levels drift down with time
Leukopenia, aplastic anemia (CBC)
LFTs, thyroid function
Oxcarbazepine indications and side effects
Partial
Hyponatremia, but no CBC changes (unlike CBZ)!
Ethosuxamide
Absence
common: GI upset
rare: liver, bone marrow (no routine screening needed)
Levatiracetam (keppra) indications and side effects
Used for many seizure types
Excreted by kidney, reaches therapeutic dose quickly
Main s/e is behaviour/irritability, which limits its use if present
Idiosyncratic adverse effects of AEDs
rare, serious, life threatening - dose doesn’t matter, usually happens in first 6 weeks
Dose related side effects of AEDs
common, mild: GI, HA, drowsy –> decrease dose by 25%
Neonatal myasthenia gravis diagnostic test
Edrophonium (tensilon) test (BAChase inhibitor, brief improvement in symptoms)
Neonatal myasthenia gravis presentation
hypotonia, poor feeding, newborn, normal pupils normal DTR, resolves
Congenital mysthenic syndrome
Not autoimmune, inherited neuromusc disorder at NMJ with Ach pre/post but not because of antibodies = different treatment
Presents at different ages
Congenital myotonic dystrophy
Mom 50%, presents at birth
More severe than neonatal myasthenia gravis - poor suck, decr GI motility, resp distress, decr fetal mvmts/polyhydramnios
Congenital myotonic dystrophy mutation and inheritance
Triplet repeat Chromosome 19, AD
DMD diagnostic test and biopsy findings
lack dystrophin with muscle fiber atrophy/necrosis
PCR for dystrophin gene mutation done first, if negative –> muscle biopsy
DMD inheritance
2/3 X linked recessive, 1/3 spont mutation
Guillain Barre Syndrome CSF findings
^^protein (2x) with normal Glu and NORMAL WBC (normally if ^prot then ^WBC)
Guillain Barre Syndrome investigations
Motor nerve conduction velocity decreased, EMG: acute denervation of muscle, CK normal or increased
Guillain Barre Syndrome poor prognostic factors (3)
CN involvement, intubation, max disability at presentation
Guillain Barre Syndrome treatment
supportive, if rapidly evolving can do IVIG x 2.5 days, steroid not effective, spontaneous recovery
IVH screening in prems
<32 weeks at 2nd week of life + 6 weeks, critically ill –> DOL 3
All at risk will have f/u at term (36-40) to look for PVL
When does neural tube close?
4th week!
Causes of Bell’s palsy (4)
Post-infectious: viral illness Ramsey hunt syndrome (VZV or herpes - look for vesicles in ear canal) Lyme disease AOM
Sturge-Weber Syndrome features
facial port wine stain (V1) leptomeningeal angioma Glaucoma Calcified vessels on head CT Seizures in 80%
Contraindications to ketogenic diet
fatty acid oxidation defects
carnitine deficiency
