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22 Cards in this Set

  • Front
  • Back
neural tube defects
spina bifida
tethered cord
meningocele
myelomeningocele
spina bifida occulta
no protrussionof neural tissue
asymptomatic
overlying patch of hair, lipoma, dermal sinus
meningocele
meninges herniate through defect in posterior vertebral arches
fluctuant midline mass covered with skin
transilluminates
MRI and then CT of head for hydrocephalus
surgical correction
myelomeningocele
sacral lesions --> bowel/bladder incontinence, perineal anesthesia, no motor impairment
lumbar lesions --> flaccid paralysis, thermoalgesic loss, urinary dribbling
80% associated with hydrocephalus; type I Chiari
do MRI and CT of head for hydrocephalus
surgical correction
Chiari malformation
type I --> cerebral tonsils into cervical canal, no hydrocephalus, headache and neck pain, urinary frequency
type II --> progressive hydrocephalus + myelomeningocele
Dandy-Walker
cystic expansion of fourth ventricle
agenesis of posterior cerebellar vermis
increased head size, prominent occiput, cerebellar ataxia
hydrocephalus
increased head circumference
bulging anterior fontanel
headache
papilledema
sixth nerve palsy
febrile seizures
when temperature increases rapidly >39 celsius
generalized tonic-clonic, ~10-15 minutes with brief postictal period
work-up --> determine cause of fever and rule out meningitis
no routine labs, no EEG, no neuroimaging
treatment --> control fevers
simple partial seizures
asynchronous tonic or clonic movements for 10-20 seconds; no postictal period
EEG --> spike and sharp waves or multifocal spikes
treatment --> carbamazepine, phenytoin; levetiracetam
partial complex seizures
tonic or clonic movements with impaired consciousness
automatisms --> lip-smacking, chewing, swallowing
interictal EEG --> anterior temporal lobe --> sharp waves, focal spikes
MRI --> abnormalities in temporal lobe
treatment --> carbamazapine
absence seizures
generalized; cessation of movement, speech and blank stare; no postictal period
EEG --> 3Hz spikes + generalized wave discharge
treatment --> ethosuximide, valproic acid
tonic clonic seizures
generalized; loss of consciousness, tongue bitting, relaxation of sphincters
postictal --> semicoma, disoriented, vomiting, headache
treatment --> valproic acid, phenobarbital, phenytoin, carbamazepine
neurofibromatosis 1
von Recklinghousen; chromosome 17
café-au-lait spots
iris Lisch nodules
neurofibromas
axillary/inguinal freckles
optic glioma
neurofibromatosis 1 complications
gliomas
astrocytomas
neurofibrosarcoma
stroke
seizures
cognitive defects
neurofibromatosis 2
chromosome 22
bilateral acoustic neuromas
hearing loss
headache
associated neurofibroma, glioma, meningioma
tuberous sclerosis
CNS tubers in cerebral convolutions seen on CT
calcifications --> ventricular cavities --> hydrocephalus
infantile spasms
skin lesions
retinal lesions
heart rhabdomyoma
kidney hamartoma or polycystic kidneys
treat seizures
Sturge-Weber presentation
facial nevus
seizures
contralateral hemiparesis
intracranial calcifications
mental retardation
ipsilateral glaucoma
Sturge-Weber diagnosis
skull x-ray --> occipital-parietal calcifications
CT --> unilateral cortical atrophy and hydrocephalus ex-vacuo
increased intraocular pressure
Friedrich ataxia
autosomal recessive
ataxia before 10 years
no DTRs
babinski
loss of posterior columns
dysarthria
hypertrophic cardiomyopathy
Marie-Charcot-Tooth presentation
disease of peroneal and tibial nerves with peroneal muscle atrophy
clumsyness
falls
foot drop
atrophy of muscles of anterior leg compartment
claw hand
slowly progressive
Marie-Charcot-Tooth diagnosis
decreased nerve conduction velocities
normal CPK
sural nerve biopsy is cofirmation
Marie-Charcot-Tooth treatment
stabilize ankles
surgical correction