neuro 25

Question 1

risk factors for CP

Answer 1

hypoxic ischemic insult to the brain in prenatal period, prematurity, low birth weight, chorioamnionitis, prenatal viral infections and prenatal stroke

Question 2

hemiparetic CP

Answer 2

weakness and spasticity on one side of the body; early hand preference, fisting, and incr reflexes with an upgoing toe on the affected side

Question 3

diparetic CP

Answer 3

spasticity of all four limbs, but affecting the legs more than the arms; normal intelligence and less likely to have seizures than other forms of CP

Question 4

spastic quadriplegia

Answer 4

all four limbs affected; seizures often occur in the first 48 hrs of life

Question 5

clinical manifestations of CP

Answer 5

flaccid weakness, asymm limb movements, or seizures; older kids get spasticity, dystonia, developmental delay, and drooling

Question 6

key clue that a neuro disorder is CP

Answer 6

static; that is, not progressive

Question 7

what intelligence tests can be used to establish mental retardation?

Answer 7

Stanford-Binet IQ and the Wechsler Preschool and Primary Scale of Intelligence

Question 8

Profound mental retard

Answer 8

less than 25

Question 9

Severe mental reated

Answer 9

25 to 40

Question 10

Moderate mental retard

Answer 10

40-55

Question 11

Mild mental retard

Answer 11

55-70

Question 12

moro reflex

Answer 12

elicited by head extension; causes abduction of arms and leg extension, followed by slower abduction of arms; appears at birth and disappears at 3 months

Question 13

tonic neck reflex

Answer 13

turning head and then arm and leg extended on the side of the turn; aka fencer; appears at 1 month and disappears at 5 mos

Question 14

traction response reflex

Answer 14

lift baby by traction in both hands; head lag after 6 mos is pathologic and indicates hypotonia

Question 15

parachute reflex

Answer 15

appears at 6 mos and persist; plunge infant downwards and he should thrust forward symm as if breaking fall

Question 16

Rett’s syndrome

Answer 16

progressive neurodevelopmental disorder; generally affects girls only; normal development until 6-18 mos; stereotyped hand movements

Question 17

two important peroxisomal disorders that can cause pediatric neuro issues

Answer 17

X-linked adrenoleukodystrophy and Zellweger’s syndome

Question 18

neurodegerantive diseases involving the white matter

Answer 18

metachromatic leukodystrophy, Krabbe disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease

Question 19

congenital macular cherry-red spots found in what

Answer 19

Tay-Sachs, Sandhoff disease, Niemann-Pick disease, Gaucher disease, metachromatic leukodystrophy, and the sialidoses

Question 20

phakomatoses

Answer 20

aka neurocutaneous disorders; lesions in the central and peripheral nervous system, skin, eyes, and other organs

Question 21

most common cause of hypotonia

Answer 21

cerebral hypotonia; you know this is cerebral when you see other signs of CNS dysfunction like seizures, developmental delay, etc

Question 22

treatment for ADHD

Answer 22

stimulatnes like methylphenidate and dextroamphetamine

Question 23

what is the metabolic defect in Tay Sachs?

Answer 23

hexosaminidase A

Question 24

features of tay sachs

Answer 24

cherry-red spot

Question 25

metabolic defect in Niemann-Pick disease

Answer 25

sphingomyelinase

Question 26

defect in gaucher disease

Answer 26

glucocerebrosidase; cherry red spot and gaucher cells in bone marrow\

Question 27

defect in Krabbe disease

Answer 27

galacytosylceramide; globoid cells with PAS-pos granules

Question 28

Hurler’s syndrome

Answer 28

defect in a-L-iduronidase; clouding of cornea; characteristic facies and dwarfism

Question 29

Hunter’s syndrome

Answer 29

defect in iduronate sulfatase; hurler phenotype without clouding

Question 30

metachromatic leukodystrophy

Answer 30

defect in Arylsulfatase A; cherry red psot, demyelinating disorder. Can present as schizophrenia in adults. Pos urine sulfatides

Question 31

adrenoleukodystrophy

Answer 31

defect in very long chain FAO; x linked; white matter hyperintensity on MRI; may present as a neuropahty or myelopathy in adults

Question 32

Alexander disease

Answer 32

defect in glial fibrillary acidic protein; Rosenthal fibers on bx; Macrocephaly; dysmyelination of the CNS

Question 33

Canavan disease

Answer 33

defect in aspartoacylase; macrocephaly, dysmyelination o the CNS

Question 34

Pelizaeus-Merzbacher disease

Answer 34

defect in proteolipid protein; pendular nystagmus; dysmyelination of the CNS

Question 35

Leigh disease

Answer 35

mitochondiral defect; bilateral putaminal hyperintensity on MRI

Question 36

Rett’s syndrome

Answer 36

defect in methyl-CpG-binding protein 2; x-linked; occurs exclusively in girls; microcephaly, autism, and hand-wringing

Question 37

neuronal ceroid lipofscinosis

Answer 37

excess lipofuscin storage; dementia, myoclonus, ataxia, retinitis pigmentosa

Question 38

NF1

Answer 38

optic nerve gliomas; caf au lait spots, neurofibromas, axillary or inguinal freckles; Lisch nodules in the iris

Question 39

NF2

Answer 39

bilateral acoustic gliomas

Question 40

tuberous scerosis

Answer 40

cortical tubers, subependymal nodules and astrocytomas, mental retardation, seizures; adenoma sebaceum, ash-leaf spots, shagreen patches; angiomyolipomas of kidneys, cardiac rhabdomyoma

Question 41

ataxia telangiectasia

Answer 41

truncal ataxia, progressive dementai; teleangiectasias; immunodef and susceptibility to infections, leukemia, lymphoma

Question 42

von Hippel-Lindau

Answer 42

cerebellar hemangioblastomas, ataxia; caf au lait spots; renal lesions inluding hemangiomas and carcinomas, pheochromocytoma

Question 43

Sturge weber syndrome

Answer 43

venous angioma of the pia mater, seizures, hemiparesis, mental retard; port-wine stain in the distrib of the ophthalmic nerve