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Cheng-Ching Questions > Child > Flashcards

Child Flashcards

1
Q

Galactosemia presents how?

A

newborn with feeding difficulties, vomiting, diarrhea, jaundice, hypotonia, hepatomegaly, catarcts
-need to restrict lactose and galactose from diet

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2
Q

Diagnosis in baby with low lactuate:pyruvate ratio, elevated lactate and pyruvate levels?
*ataxia, areflexia, hypotonia, retard

A

PDH deficiency

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3
Q

Management of PHD deficiency?

A

ketogenic diet, thiamine

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4
Q

Diagnosis: Low CSF glucose, but normal serum glucose level, seizures, encephalopathy

A

GLUT-1 deficiency

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5
Q

Treatment for GLUT 1 deficiency?

A

ketogenic diet

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6
Q

Failure of neural plate fusion rostrally/anterior leads to what?

A

anencephaly and encephocele

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7
Q

What is anencephaly?

A

complete absence of both cerebral hemispheres
*not compatible with life

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8
Q

What is encephalocele?

A

herniation of neural tissues into a midline defect in the skull
*most often in occipital area

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9
Q

Newborn with musty smelling urine, blonde hair, pale, blue eyes, cognitive delay, seizures, microcephaly?

A

PKU deficiency
*AR

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10
Q

Treatment for PKU deficinecy?

A

low protein diet and phenylalanine free formua

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11
Q

Maple syrup urine disease is caused by what?

A

branched chain alpha ketoacid dehydrogenase complex deficinecy
*AR x

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12
Q

Treatment for maple syrup urine disease?

A

low protein diet

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13
Q

What is sacral agenesis?

A

absence of the sacrum

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14
Q

What is meningocele?

A

isolated protrusion of the meninges
*usually no neuro deficits

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15
Q

What is myelomeningocele?

A

protrusion of all intraspinal contents: spinal cord, nerve roots, meninges
*chiara II malformations
*associated with neuro deficits

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16
Q

What is diastematomyelia?

A

splitting of the spinal cord into 2 portions

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17
Q

What is diplomyelia?

A

duplication of the spinal cord

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18
Q

What other diseases are associated with TSC?

A

cardiac rhabdomyomas (can regress over time), renal angiomyolipomas, lymphangiomyomatosis, retinal hamrtomas

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19
Q

What is propionic acidemia caused by?

A

deficiency of propionyl CoA carboxylase

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20
Q

How does propionic acidemia present?

A

normal at first but then develop lethargy, hypotonia, dehydration, atttacks of metabolic acidosis and ketosis, hyperammonia.
-can head to pancytopenia, ICH

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21
Q

Treatment for propionic acidemia?

A

low protein diet, carnithine, biotin

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22
Q

Do patients with spina bifida oculta have any cognitive or motor delay?

A

usually no

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23
Q

Inheritance of Lesch Nyhan?

A

X linked

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24
Q

Niemann Pick type A

A

involves CNS and other viscera
-cherry red spot, hepatosplenomegaly, failure to thrive
-most die by 3 years

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25
Q

Niemann Pick Type B

A

Does not affect CNS

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26
Q

Both Niemann Pick Type A and B are caused by what?

A

sphingomyelinase deficinecy

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27
Q

Bone marrow biopsy of Niemann Pick A and B will show what?

A

vacuolated histiocytes with lipid accumulation/foam cells

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28
Q

Niemann Pick C is caused by what?

A

defects in intracellular cholesterol circulation
-results in cholesterol accumulation in perinuclear lysosomes
-diagnose with Filipin test

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29
Q

Niemann Pick C is caused by what gene?

A

NPC1, chromosome 18q11

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30
Q

Type 1 sialidosis presents how?

A

-adolescence to adulthood
-myoclonic epilepsy, visual deterioration, cherry red spots without dysmorphism

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31
Q

Type 2 sialidosis presents how?

A

-childhood
-myoclonic epilepsy, cherry red spots, severe neuro abnormalities, coarse facial features, dysosotosis and psychomotor retardation

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32
Q

Molar tooth sign on MRI

A

Joubert’s or COACH syndrome

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33
Q

How does Joubert’s present?

A

-AR
-developmental delay, ataxia, oculomotor abnormalities, respiratory difficulties
-ciliopathy

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34
Q

Failure of prosencephalon to form telencephalon and diencephalon and failure of 2 distinct hemispheres results in what?

A

holoprosencephaly

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35
Q

Macrocephaly and sundowning of the eyes are symptoms of what?

A

hydrocephalus

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36
Q

Congenital aqueductal stenosis is caused by what?

A

narrowing of the cerebra aqueduct that connects the 3rd and 4th ventricle

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37
Q

Chondrodysplasia punctata with bony stippling of patella is associated with what condition?

A

Zellweger

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38
Q

Recurrent epistaxis, AVMs and telangiectasis?

A

Osler weber rendu

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39
Q

Mutation in Osler Weber Rendu

A

HHT1 gene on chromosome 9
HHT2 chromosome 12

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40
Q

Pseudoxanthoma elasticum

A

connective tissue disorder
yellow xanthomas in skin regions and mucous membranes
peu d’orange appereance on retina
vascular occlusions and intracranial carotid artery aneursyms

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41
Q

Xeroderma pigmentosum

A

-neurocutaneous disorder
-sensitivity to UV light, predisposes people to freckling and multiple cutaneous malignancies
-cognitive declin, hearing loss, tremor, chorea

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42
Q

What is septo-optic dysplasia?

A

hypoplasia or absence of septum pellucidum, optic nerve and optic chiasm hypoplasia, dysgenesis of corpus callosum and anterior commissure and forix deattachment

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43
Q

cavum septum pellucidum

A

septum pellucidum is not fused

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44
Q

behavior changes, cognitive impairement, spasticity, gait problems and incoordination?

A

X-linked adrenoleukodystrophy
*ABCD1 gene

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45
Q

Leigh’s syndrome is due to what dysfunction?

A

mitochondrial

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46
Q

respiratory involvement is often associated with which syndrome?

A

leigh

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47
Q

Kearns Sayre syndrome is caused by what?

A

a single large scale mithchondrial DNA deletion or less commonly duplication

48
Q

Symptoms of Kearns Sayre

A

progressive external ophthalmoplegia, onset before age 20 and one of these:short stature, pigmentary retinopathy, cerebellar ataxia, heart block and increased CSF Protein

49
Q

Lipodystrophy with prominent fat pads in butt and inverted nipples is distinctive for what disease?

A

Type 1 CDG (congential disorders of glycoslyation)
AR

50
Q

Agenesis or dysgensis of corpus callosum is due to what?

A

abnoramlities in commissural plate

51
Q

Hypopigmented streaks/patches that follow skin lines

A

hypomelanosis of Ito

52
Q

Incontinentia pigmenti inheritance

A

X Linked dominant
-NEMO gene
*only females, males die

53
Q

Incontinentia pigmenti lesions

A

vesiculobullous lesions at birth, verrucous lesions at 6 weeks of age, hyperpigmented lesions thereafter and then become hypopigmented
-some people dont have any neuro findings, but can have ocular abnormalities, pyramidal tract findings, intellectual impariement

54
Q

neurocutaneous melanosis

A

congential cutaneous lesions that are abnormally pigmented in association with leptomeningeal melanosis
*high risk melanoma

55
Q

Parry Romberg syndrome

A

progressive loss of facial tissue, cartilage, bone –>hemifacial atrophy
*headaches, horner’s, seizures, hemiparesis

56
Q

Maffucci’s syndrome

A

multiple enchodromas, secondary hamgioma formation, vitiligo, hyperpigmented patches, cafe au lait

57
Q

periventricular nodular heteroptia is a disorder of what

A

cell migration

58
Q

Disorders of cell proliferation

A

megalencephaly and focal cortical dysplasia

59
Q

Disorders of cell migration

A

lissencephaly, cobblestone complex malformations, all types of heterotopia

60
Q

Disorders of cortical organization

A

polymicrogyria, schizencephaly, microdysgenesis

61
Q

What is hemimegalencephaly?

A

enlargement of one brain hemisphere
frequently associated with cortical malformations

62
Q

Miller Dieker syndrme

A

form of lissencephaly (4 layer variant), small jaw, low set ears, short nose with upturned nares, prominent forehead, bitemporal hallowing

63
Q

Miller Diecker gene

A

LIS1 gene, chromosome 17

64
Q

lissencephaly with abnormal genitalia in males?

A

x-linked lissencephalu
*ARX gene

65
Q

Neuro manifestations of hypomelanosis of Ito?

A

intellectual impairement, macro/microcephaly, seizures, cerebral hypoplasia and cerebellar hypoplasia,
-also have eye involvement: catarcts, optic atrophy etc
-congential heart disease

66
Q

Are cafe au lait spots hypo or hyperpigmented?

A

hyperpigmented

66
Q

Are ash leaf spots hypo or hyperpigmented?

A

hypopigmented

66
Q

Legius syndrome

A

-AD cutaneous syndrome
-cafe au lait spots, axillary/inguinal freckling but NO optic gliomas, neurofibromas, lisch nodules

67
Q

Homocystinuria is caused by what

A

cystathionine beta synthase deficinecy
AR

68
Q

homocystinuria presents how?

A

normal but then get developmental delay, marfinoid habitus, high incidiency of thromboembolism

69
Q

Treatment for homocystinuria

A

daily pyridoxine, low protein diet

70
Q

Periventricular nodular heterotopia genetics

A

usually caused by FLNA gene (FILAMIN A) on chromosome Xq23

71
Q

What is a plexiform neurofibroma?

A

they originate in the peripheral nerves

72
Q

Genes in TSC?

A

AD
TSC1 (HAMARTIN) or TSC2 (TUBERIN)

73
Q

Does a normal genetic test exclude TSC?

A

no 10-25% kids have no mutation found on genetic testing

74
Q

Fragile X syndrome is the most common inherited form of what?

A

intellectual disability

75
Q

Mutation in Fragile x?

A

CGG trinucleotide repeat in the familial mental retardation 1 gene
(child with giant gonads)

76
Q

Phenotype of Fragile x?

A

elongated jaw, protuberant ears, big testes, intellectual disability

77
Q

Prader Willi syndrome

A

intellectual disability, short, dysmorphic face, HYPERPHAGIA, obesity

78
Q

Happy puppet syndrome?

A

Angelman’s syndrome
*epilepsy, ataxia, laughter, microcephaly, intellectual disability

79
Q

Williams syndrome

A

Also has happy affect and disability, but with congential heart disease, “elfin” faces

80
Q

Prader willi mutation

A

microdeletion of 15q11-q13 PATERNALLY INHERITED

81
Q

Angelman’s mutation

A

microdeletion of 15q11-q13
MATERALLY INHERITED

82
Q

Cri du chat syndrome

A

cat cry, disability, hypertelorism, migrgnathia
*deletion on chromosome 5p

83
Q

What diagnosis should you suspect in newborns with ketosis, metabolic acidosis, hyperglycemia, hyperammonia?

A

methylmalonic acidemia

84
Q

Dandy walker malformation

A

cerebellar vermis hypoplasia, 4th ventricle cystic dilatation and elevation of the torcula and tentorium cerbelli

85
Q

Subependymal giant cell astrocytoma is almost exclusively seen in what condition?

A

TSC

86
Q

Enzyme deficinecy in Gaucher’s

A

glucocerebrosidase

87
Q

Which type of Gaucher’s has an increased risk of Parkinsons

A

type 1

88
Q

Enzyme deficiency in Sandhoff’s disease?

A

Hexosaminidase A and B

89
Q

Difference between Tay Sachs and Sandhoff’s?

A

Tay Sachs only has CNS as affected system. Sandhoff’s has CNS and viscera (hepatosplenomegaly)

90
Q

How does Tay Sachs present

A

startle response, motor regression, spasticity, cherry red macula, seizures

91
Q

Subependymal nodules are one of the major diagnostic criteria for what disease?

A

TSC

92
Q

Canavan’s disease leads to an accumulation of what in the brain?

A

n-acetylaspartic acid

93
Q

What is the deficiency in Canavan’s disease?

A

aspartoacylase

94
Q

MRI findings of Canavan’s disease?

A

T2 hyperintensities WITH INVOVLEMENT of u fibers

95
Q

Classic radiologic finding of Sturge Weber

A

tram track appearance

96
Q

Syndrome with corpus callosum agenesis or absence, gyral malformations, and cerebellar hypoplasia?

A

Glycine encephalopathy

97
Q

Glycine encephalopathy is caused by what?

A

defet in proteins that make up the mitochondiral glycine cleavage system

98
Q

Krabbe disease, are U fibers spared or affected?

A

spared

99
Q

What do you see on pathology for Krabbe

A

clusters of globoid cells (cytoplasmic accumulations of galactocerebroside)

100
Q

GM1 gangliosidosis enzyme deficiency

A

lysosomal enzyme beta galactosidase

101
Q

Alexander’s disease mutation

A

GFAP

102
Q

Does Alexander’s disease spare the U fibers or involve?

A

involve

103
Q

Rosenthal fibers are seen in what disease?

A

Alexander’s

104
Q

Tad pole sign on MRI

A

Alexander’s - dramatic thinning of the upper cervical spinal cord

105
Q

Inheritance of TSC?

A

AD with variable penetrance

106
Q

Pelizaeus Merzbacher is it demyelinating or hypomyelinating leukodystrophy?

A

hypomyelinating
*spares U fibers

107
Q

Inheritence of Pelizaeus Merzbacher?

A

X linked recessive
PLP1

108
Q

How does Pelizaeus Merzbacher present?

A

nodding movements of head, pendular nystagmus, abnormal eye movements, ataxia, chorea, dystonia, developemental arrest, seizures

109
Q

MPS type 1

A

Hurler’s syndrome
*alpha L iduronidase deficinecy
*accumulation of dermatan and heparan sulfate

110
Q

MPS type 2

A

Hunter’s syndrome
*defect in iduronate sulfatase
*accumulation of dermatan sulfate and heparan sulfate

111
Q

Acute intermittent porphyria is caused by what?

A

deficiency of PBG deaminase

112
Q

What do you see in urinary studies for AIP?

A

elevate urinary excretion of ALA and PBG during attacks

113
Q

Menkes disease gene?

A

X linked recessive
*ATP7A
(copper transporter)

114
Q

abetalipoproteinemia is has demyelination of what part of the SC?

A

posterior columns

Cheng-Ching Questions (7 decks)

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