Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
19 Cards in this Set
- Front
- Back
|
13 y.o. with ataxia, weakness, abnormal lipid profile
|
- abetalipoproteinemia
- mutation of MTP => decreased chylomicrons, VLDL, LDL => decreased vit E => neuropathy |
|
|
newborn with cystic swelling at base of spine?
|
- meningocele
|
|
|
fusion of atlas to midbraine
|
- often associated with chiari malformation
- increased risk brainstem compression, hydrocephalus |
|
|
PKU
|
- increased phenylalanine
|
|
|
kid dvlps ataxia, MR, white matter abnormalities on MRI
- decreased arylsulfatase A activity |
- metachromatic leukodystrophy
- dx by sulfatide in schwann cells |
|
|
aicardi syndrome
|
- agenesis of corpus callosum associated with MR< epilepsy, vertebral anomalies, chorioretinitis
|
|
|
Hartnup disease
|
- intestinal malabsorption of tryptophan
- scaly erythematous rash on face, episodic ataxia |
|
|
CT shows calcification in cerebral cortex in railroad trach pattern
|
- sturge-weber syndrome 2/2 defective blood brain barrier
|
|
|
pt with increased RBC, ataxia, HSM, proteinuria, hematuria
|
- VHL disease, also see retinal angiomas
- PCKD, PCLD, dvlp hemangioblastomas |
|
|
abetalipoproteinemia
|
- posterior column and spinocerebellar tract
- ataxia, peripheral neuropathy, blood smear shows acanthocytosis - sx similar to freidrech's ataxia wout dementia |
|
|
tuberous sclerosis inheritance
|
- AD but variable penetrance, also high spontaneous mutations
- adenoma sebaceum - retinal phakomas= gliomatous tumors = important for dx - subependmal glial nodules => can cause obstructive hydrocephalus |
|
|
type 2 chiari malformation associated with what defect?
|
- spinal bifida
|
|
|
cafe au lait spots vs ash leaf
|
- NF1
- tuberous sclerosis |
|
|
Dandy Walker malformation
|
- cyst in posterior fossa, incomplete fusion of cerebellar element inferiorly
- can cause obstructive hydrocephalus |
|
|
tx of seizures in tuberous sclerosis?
|
- ACTH
|
|
|
lennox-gastaut syndrome
|
- tuberous sclerosis with persistant seizures and severe MR
|
|
|
spinal muscular atrophies
|
- anterior horn cell disease
- Werding-Hoffman: weakness, muscle atrophy, hypotonia - death after birth - Kugelberg-Welander: same but less lethal |
|
|
large cyst in brain
|
- vascular injury in utero = porencephaly
|
|
|
EtOH + pregnancy
|
- growht retardation, dysmorphic facies, impaired neuronal migration => collection of neurons in odd areas, cortical disrupation, malformation
|
