Neurology Flashcards
Presentation of Wilson disease?
Younger–liver disease; older–neuro/psych symptoms (tremors, emotional problems, handwriting difficulty, depression, abnormal eye movements)
Lab findings in Wilson disease?
Low copper and low ceruloplasmin (copper deposited in tissues, not in serum)
Treatment of Wilson disease?
D-penicillamine
Causes of ataxia (“TIN” as in the Tin-Man)?
1) Toxic ingestions (ethanol, pesticides)
2) Infections (including Guillain Barre and post-infectious)
3) Neoplasm
- Also possibly metabolic disease or cerebral hemorrhage
Presentation of ataxia telangiectasia?
Ataxic gait, skin/eye telangiectasias, +/- MR, low Ig’s and T-cell dysfunction, increased malignancies (HD, leukemia)
Presentation of Freidreich ataxia?
Presents in late childhood/early adolescence, slow/clumsy gait, decreased strength, decreased reflexes, elevated plantar arch, diabetes, CHF
Inheritance and presentation of Huntington chorea?
AD; p/w chorea, hypotonia, emotional lability (juvenile more likely to present with hypertonia)
Do negative ASO/anti-DNase B titers rule out Syndemham chorea?
NO!!
How do simple motor tics present?
Eye blinking, head/face/shoulder movements
How do choreiform movements present?
Repetitive, jerking movements–cannot be suppressed
How long are tics present to diagnose Tourette syndrome?
At least 1 year
Comorbidities of Tourette syndrome?
ADHD, OCD (stimulants may unmask tics, but do not cause them)
Medications that can cause pseudotumor cerebri?
High dose vitamin A, steroids, thyroxine, lithium, some abx
Bacteria associated with Guillai Barre syndrome?
Campylobacter jejuni
Treatment of choice for myasthenia gravis?
Pyridostigmine (acetylcholinesterase inhibitor); thymectomy (if thymoma is present)
Difference between congenital (life-long) myasthenia gravis and transient (Mom’s antibodies) myasthenia gravis?
Transient does not involve the eyes; congenital does (C for congenital and conjunctiva)
Presentation of infantile botulism?
Weak cry, constipation, listlessness, hypotonia, poor feeding, descending paralysis
Inheritance of Duchenne muscular dystrophy?
X-linked recessive
What distinguishes Duchenne muscular dystrophy from other neuromuscular disorders?
Absence of both tongue fasciculations and eye muscle involvement
Inheritance of myotonic dystrophy?
AD
Empiric antibiotics for brain abscess?
Vanco, ceftriaxone, metronidazole
Treatment of spinal epidural abscess?
Abx with good staph coverage and surgical decompression
What is transverse myelitis?
Post-infectious demyelination of nerves and spinal cord due to inflammation
Presentation of transverse myelitis?
Acute onset of weakness, hypotonia, and decreased reflexes; progression to hypertonia and hyperreflexia; bowel/bladder dysfunction
Treatment of transverse myelitis?
Supportive care (most will have spontaneous recovery in a few months)
Presentation of SMA type 1?
Only motor, no sensory–hypotonia, weakness, poor suck, tongue fasciculations
Difference between infantile botulism and SMA type 1?
Tongue fasciculations
What is Todd’s paralysis?
Post-ictal focal motor weakness
EEG findings for absence seizures?
3 Hz spike and wave
Differences between absence and complex partial seizures?
Absence seizures start and end abruptly (no post-ictal), and CPS may start as simple partial and end gradually with post-ictal; absence are also short (<30s)
What diagnositic maneuver can induce absence seizure?
Hyperventilation
Treatment of absence seizures?
Ethosuximide or valproic acid
Treatment of generalized tonic-clonic seizures?
Valproic acid, phenytoin, carbamazepine, lamotrigine (watch out for SJS)
What are myclonic seizures?
Single or repetitive contractsion of isolated groups of muscles–“shock-like muscle twitches”
How to differentiate tics from seizures?
Tics can be suppressed
What is the triad in infantile spasms (West syndrome)?
1) Infantile spasms
2) Hypsarrhythmia on EEG
3) Developmental delay
What do infantile spasms look like?
Sudden flexion or extension of body (similar to Moro reflex); may occur 20-30 in a row
What genetic syndrome is associated with infantile spasms?
Tuberous sclerosis (babies with “tuberous” sclerosis love their potatoes)
Treatment of infantile spasms?
ACTH, steroids, benzos, focal resection?
Treatment of simple partial seizures?
Carbamazepine (treatment not always necessary)
What are Benign Rolandic seizures?
Self-limited focial motor seizure, often with unilateral sensory involvement
When do Benign Rolandic seizures occur?
Most often at night when child is asleep; associated with migraines
Inheritance and treatment of Benign Rolandic seizures?
AD; treat with carbamazepine (may not always be indicated)
Treatment of choice for juvenile myoclonic epilepsy?
Valproic acid
How long seizure-free before withdrawing meds?
2 years (don’t withdraw if seizure onset >12yo, neonatal seizures, or multiple meds tried before control)
Presentation of adrenoleukodystrophy?
Difficulty paying attention and concentrating, clumsy (abnormal motor function), adduction of contralateral leg with patellar reflex
What is cerebral palsy?
Static encephalopathy with gross and fine motor abnormalities evident early in life
Most common risk factor for CP in premature babies?
Perinatal infections
Presentation of labyrinthitis?
Vertigo lasting hours or days, hearing loss
Presentation of stroke in mitochondrial disorder?
Elevated lactate, sensorineural hearing loss, stroke
Order of cognitive impairment in CP?
Spastic quadriplegia > spastic hemiplegia > spastic diplegia (best)
