IX Flashcards
most common supratentorial and infratentorial CNS tumor
astrocytoma
parinauds syndrome
paralysis upward gaze
seen with pineal gland tumors
where do creaniopharyngiomas arise
sella turcica
bilateral retinal hemorrhages in infant
shakey baby syndrome- shearing of subdural veins
galactosemia deficient enzyme
galactose-1-phosphate-uridyl transferase deficiency
Sx galactosemia
newborn with failure to thrive, bilateral cataracts, jaundice, hypoglycemia
galactosemia patients are at inc risk for what type sepsis
e coli neonatal sepsis
aura tells you what about seizure
partial seizure
complex partial seizure
have automatisms during LOC
partial seizure
no LOC
craniopahryngiomas are from what
rathkes pouch epithelial remnants
associated Sx with cranipharyngioma
DI
growth failure
hypothyroidism
GH deficiency
Dx cranipharygioma is made
CT or MRI
what is repeat sequence in fragile X
CGG
Fridereich ataxia
unsteady gait, weakness
decreased vibratory and position in lower extremities
ankle jerks absent bilaterally
T wave inversions in inferior and lateral chest leads
inheritance friderich ataxia
auto recessive
auto dominan muscular dystrophy
myotonic dystrophy
CTG repeats in DMPK gene chromosome 19q13.3
myotonic dystrophy presentation
facial weakness, hand grip myotonia, dysphagia
can get arrhythmias
cataracts, balding, testicualr atrophy and infertility
When does duchene muscular dystrophy being
2-3y.o
NF1 manifeastations
cafe au lait inguinal freckles iris hamartomas neurofibroms increase risk of optic glioma