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ABPN 2022 > Ching-Ching Pediatrics > Flashcards

Ching-Ching Pediatrics Flashcards

1
Q

Anterior neuropore fusion defects

A

Anechephaly, encephalocele

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2
Q

Posterior neuropore fusion defects

A

Spina bifida, myeomeningocele

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3
Q

Risk factors for neural tube defect

A

Folate deficiency, AEDs, maternal diabetes, vitamin A and vitamin A analogues toxicity

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4
Q

Signals for neural tube differentiation

A

From mesoderm of notochord: sonic hedgehog
From lateral epidermal ectoderm: bone morphogenic protein

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5
Q

Cell of origin of CNS

A

Ectoderm, from neural tube

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6
Q

Cell of origin of PNS

A

Ectoderm, neural crest cells

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7
Q

Cell of origin of vertebral bodies

A

Mesoderm of notochord

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8
Q

Balloon cells

A

Focal cortical dysplasia, a cortical development disorder of cell dysplasia (proliferation) - if FCD with normal cells, this is a disorder of cortical organization

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9
Q

Holoprosencephaly

A

Failure of prosencephalon to divide into cerebral hemisphere and other structures. Problem during 4-8 week of gestation.

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10
Q

Reduced visual acuity, panhypopituitarism, absent septum pellucidum

A

Septo-optic dysplasia

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11
Q

Smooth brain, small chin, thin upper lip, intractable seizures

A

Lissencephaly type I: Miller-Dieker syndrome, LIS1 gene, chasm 17, disorder of microtubulins and dynenin
Most cases occur de novo

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12
Q

DCX gene (doublecortin protein) abnormality: phenotype, mode of inheritance

A

X-linked lissencephaly, DCX gene, X-linked: gene mutations lead to smooth Brainin males, double cortex in females

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13
Q

3 disorders associated with cobblestone malformations

A

Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular dystrophy

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14
Q

Molar tooth sign

A

Joubert’s syndrome and other disorders of cerebellar hypoplasia

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15
Q

Inappropriate laughter, arm flapping, ID, seizures, prominent jaw

A

Angelman’s syndrome

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16
Q

Childhood obesity and ID

A

Prader-Willi syndrome, Laurence-Moon syndrome

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17
Q

Genetic disorder in Prader-Willi and Angelman’s syndrome

A

Chromosome 15q11-q13. Prader-Willi when paternally inherited due to maternal imprinting and Angelman’s syndrome when maternally inherited due to paternal imprinting

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18
Q

ID, protuberant ears and large testes

A

Fragile X, CGG trinucleotide repeat expansion (mnemonic: Child with Giant Gonads)

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19
Q

Development regression at ~6-18 months with hand wringing and microcephaly in female

A

Rett’s syndrome, MECP2 mutations, CDLK5 mutations result in Rett-like symptoms with earlier onset mutations

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20
Q

Cafe au lait macules

A

NF1

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21
Q

Shagreen patch

A

Tuberous sclerosis complex

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22
Q

Shagreen patch

A

Tuberous sclerosis complex

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23
Q

Cutaneous neurofibromas

A

NF1

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24
Q

Gene in NF2

A

MERLIN gene, chsm 22

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25
Q

Gene in NF1

A

Neurofibromin gene, chsm 11

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26
Q

Axillary or inguinal freckling

A

NF1

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27
Q

Bilateral schwannomas

A

NF2

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28
Q

Lisch’s nodules

A

Iris hamartomas, NF1

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29
Q

Subependymal giant cell astrocytoma

A

TSC

30
Q

Sphenoid wing dysplasia

A

NF1

31
Q

Ashleaf spots

A

Hypomelanotic lesions, TSC

32
Q

Lymphangiomyomatosis

A

TSC, F>M

33
Q

Tx that may inhibit growth of hamartomas in TSC

A

Rapamycin and its analogues

34
Q

Multiple intracranial AV malformations

A

Hereditary hemorrhagic telelanglectasia or Osler-Weber-Rendu (ENG gene, AD)

35
Q

Hypopigmented streaks that follow skin lines

A

Hypomelanosis of Ito

36
Q

Dental enamel pits

A

TSC

37
Q

Hyperpigmented cutaneous lesions and leptomeninges melanoma

A

Neurocutaneous melanosis

38
Q

Hemifacial atrophy

A

Parry-Romberg syndrome

39
Q

Multiple endochondromas and secondary hemangiomas

A

Maffuci’s syndrome

40
Q

‘Retinal, cerebellar, and spinal hemangioblastomasa; chromosome, mode of inheritance

A

von Hippel-Lindau, VHL gene, chsm 3, AD
*Also see pheochromocytoma and pancreatic endocrine tumors

41
Q

X-linked dominant disorder with skin lesions and variable neurologic involvement; gene

A

Incontinentia pigmenti; NEMO gene

42
Q

Freckles, multiple skin and systemic malignancies, neuropathy, ataxia, cognitive decline; pathophysiology

A

Xeroderma pigmentosa, due to defect in DNA repair leading to sensitivity to UV light

43
Q

Brittle hair, bilateral subdural hematoma, developmental delay, cause

A

Menkes disease (kinky hair syndrome); copper deficiency due to copper transporter ATP7A mutation

44
Q

Epileptic encephalopathy and low-CSF glucose level

A

Glucose transporter type 1 deficiency, GLUT 1 transporter, SLC2A1 gene, DeVivo syndrome

45
Q

Developmental delay, dysmporhic features, inverted nipples and prominent fat pads, carbohydrate deficient transferrin in the CSF

A

Congenital disorders of glycosylation

46
Q

Urine with musty odor

A

PKU

47
Q

Cystathionine-beta-synthase deficiency

A

Homocystinuria

48
Q

Accumulation of branch chained amino acids: leucine, isoleucine and valine

A

Maple syrup urine disease

49
Q

ID, aggressiveness, self-mutilaiton, hyperuricemia with gout and nephrolithiasis

A

Lesch-Nyhan: Hypoxanthine guanine phophorlbosyltransferase deficiency

50
Q

Gaucher cells: “wrinkled tissue paper” cells

A

Gaucher’s disease, glucocerebrosidase deficiency

51
Q

Globoid cell

A

Krabbe’s disease: galactocerebroside-beta-galactosidase deficiency

52
Q

Beta-galactosidase deficiency

A

GM1 gangliosidosis

53
Q

Hexosaminidase A deficiency

A

Tay-Sachs disease

54
Q

Hexosaminidase A and B deficiency

A

Sandhoff’s disease

55
Q

Acid sphingomyelinase deficiency

A

Niemann-Pick types A and B

56
Q

Disorder of cholesterol trafficking in the intracellular domain

A

Niemann-Pick type C

57
Q

Arylsulfatase A deficiency

A

Metachromatic leukodystrophy

58
Q

Angiokeratomas, renal failure, hypertension, strokes, autonomic dysfunction

A

Fabry’s disease, alpha-galactosidase deficiency

59
Q

Symmetric white matter involvement, posterior predominant and sparing the U-fibers

A

X-linked adrenal leukodystrophy

60
Q

Megalencephaly, symmetric white matter disease, involving the U-fibers, NAA peak on MR spectroscopy

A

Canavan’s disease: aspartoacylase deficiency

61
Q

Megalencephaly, symmetric white matter involvement predominantly in the anterior regions, Rosenthal fibers on histophatology

A

Alexander’s disease, mutation in GFAP

62
Q

White matter demyelinating with “tigroid” appearance sparing the U fibers

A
63
Q

Enlarged orange-colored tonsils

A

Tangier

64
Q

“Kinky” hair

A

Menkes

65
Q
A

Kearns-Sayre syndrome

66
Q

Get an EKG, if there is heart block, place a pacemaker

A

Kearns-Sayre syndrome

67
Q

Feeding difficulties, vomitting, diarrhea, jaundice, HS, FTT, cataracts and reducing substrates in urine

A

Galactosemia

68
Q

Triad of hyperammonemia, encephalopathy, and respiratory alkalosis
No e/o organic acidemias, normal AG, normal serum glucose

A

Urea cycle disorders

69
Q

Newborn babies with ketoacidosis, anion gap, elevated propionic acid level in the blood

A

Propionic acidemia

70
Q

Alopecia, skin rash, hypotonia, seizures, optic atrophy, hearing loss, and hyperammonemia

A

Biotinidase deficiency

71
Q
A

Neuronal ceroid lipofuscinosis

72
Q

Gryal calcifications in tram track appearance on MRI

A

Sturge-Weber syndrome

ABPN 2022 (26 decks)

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