Child Neurology HY

Question 1

Anterior neuropore fusion defects

Answer 1

anencephaly, encephalocele

Question 2

Posterior neuropore fusion defects

Answer 2

spina bifida, myelomeningocele

Question 3

Tells notochord to become mesoderm

Answer 3

sonic hedgehog

Question 4

Signal for lateral epidermal ectoderm

Answer 4

bone morphogenic proteins

Question 5

Risk factors for NTDs (4)

Answer 5

folate def, DM, AEDs, vitamin A toxicity

Question 6

cell of origin of CNS

Answer 6

ectoderm from neural tube

Question 7

cell of origin of PNS

Answer 7

ectoderm from neural crest cells

Question 8

cell of origin of vertebral bodies

Answer 8

mesoderm of notochord

Question 9

balloon cells

Answer 9

focal cortical dysplasia

Question 10

reduced visual acuity , panhypopituitarism , absent septum pellucidum

Answer 10

septo-optic dysplasia

Question 11

smooth brain small chin thin upper lip, intractable seizures

Answer 11

lissencephaly type I, Miller-dieker, LIS1 gene on chrom 17 disorder of microtubules and dynein

Question 12

smooth brain in males, double brain in females

Answer 12

DCX gene (doublecortin) x-linked

Question 13

Three disorders with cobblestone cortical malformations

Answer 13

Walker-Warburg, Fukuyama MD, muscle-eye-brain disease

Question 14

Molar tooth sign

Answer 14

Joubert syndrome, cerebellar hypoplasia

Question 15

childhood obesity and intellectual disability

Answer 15

prader-willi, laurence-moon

Question 16

inappropriate laughter, arm flapping, MRDD, seizures, prominent jaw

Answer 16

Angelman’s

Question 17

Genetics of Prader-willi and Angelmans

Answer 17

both chrom 15 (Prader-Paternal and angelmans mAternal inheritance)

Question 18

Developmental regression 6-18mos with hand wringing and microcephaly

Answer 18

Rett’s, MECP2

Question 19

Cafe au lait

Answer 19

NF 1

Question 20

shagreen patch

Answer 20

Tuberous-Sclerosis

Question 21

Gene/chrom for NF 1

Answer 21

Neurofibromin chrom 17

Question 22

NF2 gene/chrom

Answer 22

Merlin chrom 22

Question 23

axillary/inguinal freckles

Answer 23

NF1

Question 24

Lisch’s nodules

Answer 24

iris hamartomas NF1

Question 25

Subependymal giant cell astrocytoma

Answer 25

Tuberous Sclerosis

Question 26

Sphenoid wing dysplasia

Answer 26

NF1

Question 27

Ashleaf spots

Answer 27

Tuberous Sclerosis

Question 28

Intellectual disability, large testes, protuberant ears

Answer 28

Fragile X, CGG

Question 29

Lymphangiomyomatosis

Answer 29

Tuberous Sclerosis females>males

Question 30

Treatment for hamartomas

Answer 30

rapamycin

Question 31

multiple AVMs intracranially

Answer 31

Osler-weber-Rendu, Hereditary Hemorrhagic telangiectasia

Question 32

hypopigmented streaks that follow skin lines

Answer 32

qhypomelanosis of Ito

Question 33

dental enamel pits

Answer 33

Tuberous sclerosis

Question 34

hyperpigmented cutaneous lesions and leptomeningeal melanoma

Answer 34

neurocutaneous melanosis

Question 35

Hemifacial atrophy

Answer 35

Parry-romberg syndrome

Question 36

multiple endochondromas and secondary hemangiomas

Answer 36

maffucci's syndrome

Question 37

VHL

Answer 37

chrom 3, AD, hemangioblastomas

Question 38

x-linked Dominant disease that has nonspecific neurocutaneous findings

Answer 38

Incontinentia pigmenti, MEMO

Question 39

hypersensitivity to light with freckles, multiple malignancies, neuropathy, ataxia, cognitive decline

Answer 39

Xeroderma pigmentosa, DNA repair

Question 40

brittle hair, ilateral subdural hematomas, MRDD

Answer 40

Menkes: ATP7A mutation (bonus what is ATP7B ??)

Question 41

epileptic encephalopathy and hypoglycorrhachia

Answer 41

GLUT 1 , SLC2A1 gene, DeVivo syndrome

Question 42

Inverted nipples, prominent fat pads, low carbs in CSF, devo delay and dysmorphic facies

Answer 42

Congenital disorders of glycosylation

Question 43

urine with musty order

Answer 43

PKU

Question 44

Homocystinuria

Answer 44

CYSTthionine-beta-synthetase def

Question 45

Accumulation of isoleucine, leucine, valine in urine

Answer 45

MSUD

Question 46

Lesch-Nyhan

Answer 46

HGPRT

Question 47

wrinkled tissue paper cells

Answer 47

Gaucher's disease - GLUCOcerebrosidase def

Question 48

Globoid cells

Answer 48

Krabbe disease - GALACTocerebroside-beta-galactosidase def

Question 49

GM1 gangliosidosis

Answer 49

beta galactosidase def

Question 50

Tay sach's

Answer 50

Hexoaminadase A def

Question 51

Sandhoff's

Answer 51

hexosaminidase A and B def

Question 52

Niemann Pick B and C

Answer 52

Acid sphingomyelinase def

Question 53

Niemann pick C

Answer 53

disorder of cholesterol trafficking in the intracellular domain

Question 54

Metachromatic leukodystrophy

Answer 54

Arylsulfatase A deficiency

Question 55

Fabry''s

Answer 55

alpha-galactosidase, angiokeratomas, renal failure, HTN, strokes ANS dysfx

Question 56

Symmetric white matter involvement in the predominant in POSTERIOR regions,

Answer 56

Adrenoleukodystrophy

Question 57

Megalencephaly, symmetric white matter disease INVOLVES the u fibers

Answer 57

Canavan's aspartoacylase def

Question 58

Megalencephaly , ANTERIOR white matter disease

Answer 58

Alexander's disease, GFAP

Question 59

white matter disease with tigroid spares u fibers

Answer 59

Pilazeus Merzbacher gene PLP1 and x-linked

Question 60

Enlarge orange tonsils

Answer 60

tangiers

Question 61

Progressive external ophthalmoplegia, <20 y/o, short stature, ataxia, heart block, RP

Answer 61

kearns-sayre syndrome

Question 62

Feeding difficulties with N/V/D/jaundice,hepatosplenomegaly, cataracts

Answer 62

galactosemia

Question 63

alopecia, rash, hypotonia, sz, optic atrophy, hearing loss high ammonia

Answer 63

biotinidase def

Question 64

myoclonic seizure, blindness, curvilinear bodies

Answer 64

neruonal ceroid lipfuscinosis

Question 65

Gyral calcification in tram track appearance on MRI

Answer 65

Sturge-Weber

Question 66

Myoclonic epilepsy and cherry red spot

Answer 66

Sialidosis