Peds Neuro

Question 1

cerebral palsy

Answer 1

Static disorder due to pre/perinatal damage to cerebromotor pathways
3/1000 births
Sx: most common is spasticity

Question 2

Down syndrome

Answer 2

Trisomy 21

Sx: MR upslanting palpebral fissures, protruding tongue, simian crease, brushfield spots

Question 3

Fragile X syndrome

Answer 3

Boys more than girls, defect in X chromosome

Sx: moderate MR, behavioral problems, somatic abnormalities, long face, enlarged ears, macroorchidism

Question 4

Prader-willi syndrome

Answer 4

Uncommon disorder, absent segment 11 and 13 on paternally derived chromosome 15
Sx: MR, decreased muscle tone, short stature, emotional lability, insatiable appetite (obese)

Question 5

Angelman’s syndrome

Answer 5

Uncommon disorder, deletion of 11 and 13 on maternally derived chromosome 15
Sx: MR, abnormal gait, speech impairment, seizures, inappropriate happy behavior

Question 6

Rett’s syndrome

Answer 6

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

Question 7

Tay sachs dx

Answer 7

Hexo A, chromo 15, AR

Sx: cherry red spot, ashkenazi jews

Question 8

Niemann pick dx

Answer 8

sphingomyelinase, chromo 11, ar

Sx: cherry red spot, ashkenazi jews

Question 9

gaucher dx

Answer 9

glucocerebrosidase, chromo 1, AR

Sx: cherry red spot, gaucher cells in bone marrow

Question 10

krabbe dx

Answer 10

galactosylceramide p galactosidase, chromo 14, AR

Sx: globoid cells with PAS positive granules

Question 11

Hurler’s syndrome

Answer 11

a-L-iduronidase, chromo 4, AR

Sx: clouding of cornea, facies and dwarfism

Question 12

Hunter’s syndrome

Answer 12

iduronate sulfatase, xlinked

Sx: facies and dwarfism, no corneal clouding

Question 13

metachromatic leukodystrophy

Answer 13

arylsulfatase a, chromo 22, AR

Sx: cherry red spot, demyelinating disorder, schizo in adults, positive urine sulfatides

Question 14

adrenoleukodystrophy

Answer 14

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

Question 15

Alexander disease

Answer 15

GFAP, chromo 11/17, AR

Sx: rosenthal fibers on biopsy, macrocephaly, dysmyelination of CNS

Question 16

Canavan disease

Answer 16

aspartoacylase, chromo 17, AR

Sx: macrocephaly, dysmyelination of CNS

Question 17

pelizaeus-merzbacher dx

Answer 17

proteolipid protein, xlinked

Sx: pendular nystagmus, dysmyelination of CNS

Question 18

leigh dx

Answer 18

mitochondrial, AR/xlinked

Sx: bilateral putaminal hyperintensity on MRI

Question 19

neuronal ceroid lipofuscinosis

Answer 19

excess lipofuscin storage

Sx: dementia, myoclonus, ataxia, retinitis pigmentosa

Question 20

Neurofibromatosis 1

Answer 20

AD, chromo 17

Sx: optic nerve gliomas, cafe-au-lait spots, neurofibromas, axillary/inguinal freckles, lisch nodules

Question 21

neurofibromatosis 2

Answer 21

AD, chromo 22

Sx: bilateral acoustic neuromas, neurofibromas and cafe-au-lait spots less common

Question 22

Tuberous sclerosis

Answer 22

AD
Sx: cortical tubers, subependymal nodules and astrocytomas, MR, sz, adenoma sebaceum, ash-leaf spots, shagreen patches, angiomyolipomas of kidneys, cardiac rhabdomyoma, retinal phakomas

Question 23

ataxia telangiectasia

Answer 23

AR, chromo 11
Sx: truncal ataxia, progressive dementia, telangiectasias, immunodeficiency and susceptibility to infections, leukemia, lymphoma

Question 24

VHL

Answer 24

AD, chromo 3
Sx: cerebellar hemangioblastoma, ataxia, cafe-au-lait spots, renal lesions including hemangiomas, carcinomas, pheochromocytoma

Question 25

Sturge weber

Answer 25

venous angioma of pia mater, leptomeningeal angiomas, sz, hemiparesis, MR, port wine stain of opthalmic nerve