Peds Neuro Flashcards
cerebral palsy
Static disorder due to pre/perinatal damage to cerebromotor pathways
3/1000 births
Sx: most common is spasticity
Down syndrome
Trisomy 21
Sx: MR upslanting palpebral fissures, protruding tongue, simian crease, brushfield spots
Fragile X syndrome
Boys more than girls, defect in X chromosome
Sx: moderate MR, behavioral problems, somatic abnormalities, long face, enlarged ears, macroorchidism
Prader-willi syndrome
Uncommon disorder, absent segment 11 and 13 on paternally derived chromosome 15
Sx: MR, decreased muscle tone, short stature, emotional lability, insatiable appetite (obese)
Angelman’s syndrome
Uncommon disorder, deletion of 11 and 13 on maternally derived chromosome 15
Sx: MR, abnormal gait, speech impairment, seizures, inappropriate happy behavior
Rett’s syndrome
progressive neuro disorder affecting girls only
Sx: 6-18 months have hypotonia, autistic behavior, wringing and waving hand movements, lag in brain and head growth, seizures
Tay sachs dx
Hexo A, chromo 15, AR
Sx: cherry red spot, ashkenazi jews
Niemann pick dx
sphingomyelinase, chromo 11, ar
Sx: cherry red spot, ashkenazi jews
gaucher dx
glucocerebrosidase, chromo 1, AR
Sx: cherry red spot, gaucher cells in bone marrow
krabbe dx
galactosylceramide p galactosidase, chromo 14, AR
Sx: globoid cells with PAS positive granules
Hurler’s syndrome
a-L-iduronidase, chromo 4, AR
Sx: clouding of cornea, facies and dwarfism
Hunter’s syndrome
iduronate sulfatase, xlinked
Sx: facies and dwarfism, no corneal clouding
metachromatic leukodystrophy
arylsulfatase a, chromo 22, AR
Sx: cherry red spot, demyelinating disorder, schizo in adults, positive urine sulfatides
adrenoleukodystrophy
long chain fatty acid oxidation, x linked
Sx: white matter hyperintensity on MRI, may present as neuropathy or myelopathy in adults
- adrenal dysfunction with progressive degenerative disease of white matter
Alexander disease
GFAP, chromo 11/17, AR
Sx: rosenthal fibers on biopsy, macrocephaly, dysmyelination of CNS
Canavan disease
aspartoacylase, chromo 17, AR
Sx: macrocephaly, dysmyelination of CNS
pelizaeus-merzbacher dx
proteolipid protein, xlinked
Sx: pendular nystagmus, dysmyelination of CNS
leigh dx
mitochondrial, AR/xlinked
Sx: bilateral putaminal hyperintensity on MRI
neuronal ceroid lipofuscinosis
excess lipofuscin storage
Sx: dementia, myoclonus, ataxia, retinitis pigmentosa
Neurofibromatosis 1
AD, chromo 17
Sx: optic nerve gliomas, cafe-au-lait spots, neurofibromas, axillary/inguinal freckles, lisch nodules
neurofibromatosis 2
AD, chromo 22
Sx: bilateral acoustic neuromas, neurofibromas and cafe-au-lait spots less common
Tuberous sclerosis
AD
Sx: cortical tubers, subependymal nodules and astrocytomas, MR, sz, adenoma sebaceum, ash-leaf spots, shagreen patches, angiomyolipomas of kidneys, cardiac rhabdomyoma, retinal phakomas
ataxia telangiectasia
AR, chromo 11
Sx: truncal ataxia, progressive dementia, telangiectasias, immunodeficiency and susceptibility to infections, leukemia, lymphoma
VHL
AD, chromo 3
Sx: cerebellar hemangioblastoma, ataxia, cafe-au-lait spots, renal lesions including hemangiomas, carcinomas, pheochromocytoma
Sturge weber
venous angioma of pia mater, leptomeningeal angiomas, sz, hemiparesis, MR, port wine stain of opthalmic nerve
