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Peds Boards > Genetics, Metabolic > Flashcards

Genetics, Metabolic Flashcards

1
Q

Trisomy 18 Cardiac Defect

A

VSD

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2
Q

Trisomy 18 Features

A

Edward Syndrome: Rocker bottom feet, overlapping fingers, VSD

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3
Q

Trisomy 13 Features

A

Patau Syndrome: Midline Defects: clefts, postaxial polydactyly, holoprosencephaly, clenched hands

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4
Q

Single Nails, think

A

Apert Syndrome

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5
Q

Achondroplasia features

A

short stature, rhizomelic shortening
trident hands
macrocephaly

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6
Q

Achrondraplasia inheritance

A

AD, FGFR3

increased with older paternal age

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7
Q

Algaille Cardiac features

A

Pulmonary Stenosis or TOF

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8
Q

Algaille Inheritance

A

chromosome 20 deletion, JAG1 gene

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9
Q

BOR syndrome stands for

A

brachia-oto-renal syndrome

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10
Q

BOR syndrome features

A

brachial clefts/fistulas
preauricular pits
hearing loss
renal dysplasia

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11
Q

Prader Willi Features

A

hypotonia at birth
small hands and feets, with obesity
small testes

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12
Q

Complications of Achrondroplasia

A

serous OM
motor delays
spinal stenosis
cord compression

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13
Q

Infantile Spasms associated with what syndrome

A

Tuberous Sclerosis

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14
Q

Wrinkled Palms and soles, think

A

EDS

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15
Q

Treacher Collins Syndrome Features

A

micrognathia (madnibular and maxillary hypoplasia)

ear malformations

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16
Q

Fragile X Syndrome

A

most common inherited ID syndrome

things are large: long face, large ears, large hands and feet, macroorchidism after puberty

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17
Q

Myotonic Dystrophy Genetics

A

AD
CTG repeat
anticipation, more severe when passed from mother

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18
Q

Myotonic Dystrophy Features

A

progressive weakness and wasting; facial and jaw muscles

shake your hand, but can’t let go

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19
Q

Cornelia De Lange Syndrome, Features

A

syndactyly of toes
microcephaly, IUGR,
long eyelashes & hirsutism

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20
Q

Tuberous Sclerosis Genetics

A

AD

TSC1 or 2

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21
Q

Tuberous Sclerosis Skin Findings

A

Ash leaf spots: hypopigmented macules

Shagreen Patches: oval shaped nevoid plaque on trunk or lower back

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22
Q

Tuberous Sclerosis other features

A

cortical tubers
renal angiomyolipomas or renal cysts
PCKD
rhabdomyomas

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23
Q

Wardenburg Syndrome

A

albinism, white forelock, graying
cleft lip/palate
cochlear deafness

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24
Q

NF 1 Features

A

cafe au lait, freckling, neurofibromas
optic gliomas, Lisch nodules
sphenoid dysplasia

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25
Q

NF 2 Features

A

bilateral vestibular schwannomas/acoustic neuromas

lens abnormalities

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26
Q

Proteus Syndrome

A

macrodactylyl
soft tissue hypertrophy
hemihpyertrophy
accelerated growth

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27
Q

Cleidocranial dysostosis

A

brachycephaly, frontal bossing
wormian bones (abnormal intrasutural bones)
supranumeray teeth

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28
Q

GI diseases associated with down syndrome

A

hirschsprung and duodenal atresia

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29
Q

OI & Blue Sclera

A

Type I and Type 3 (but lighten)

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30
Q

OI & Type 4

A

white sclera
milder
tibial bowing

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31
Q

OI Type 2

A

most severe, death in the newborn period due to respiratory insufficiency

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32
Q

WAGR is absence of which genes

A

WT1 (Wilms)

PAX6

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33
Q

multilocular cystic mass in nuchal region

A

think cystic hygroma

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34
Q

Crowe Sign

A

freckles in axilla, NF

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35
Q

Sturge Weber Syndrome Features

A

Port-Wine Stain in V1 distribution
glaucoma
leptomeningeal angiomatosis –> seizures

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36
Q

Ghent Criteria for Marfans

A

ectopic lens
aortic dilation or dissection
family history

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37
Q

Brushfield Spots

A

normal or associated with trisomy 21

ring appearance or “speckled irises”

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38
Q

lower eyelid absents, think

A

Treacher Collins

39
Q

NF Type 1 CNS findings

A

focal areas of T2 weighted intensity

40
Q

Stickler Syndrome

A

Pierre Robin Sequence

41
Q

Difference Between Marfans and Homocystinuria

A

Learning Difficulities

42
Q

omphalocele associated with what trisomy

A

13

43
Q

Propionic Acidemia - what it is

A

defieicny of propionyl-CoA carboxylase which oxidizes VoMIT (valine, methionine, isoleucine, threonine)
- gets get sick and vomit (ketoacidosis w or w/o hyperammonmina)

44
Q

Propionic Acidemia Complictions

A

malnutrition, FTT, recurrent infections, cardiomyopathy, pancreatitis

45
Q

MPS - Type 1

A

Hurler Syndrome, AR
coarsened facial features + corneal clouding
macrocephaly, deafness
atlantoaxial sublaxation

46
Q

MPS - Type 2

A

Hunter Syndrome, X-linked

No corneal clouding

47
Q

Type 1 Glycogen Storage Disease

A

von Gierke Disease
deficit of glucose-6-phosphatase
doll like faces with fat cheeks

48
Q

Type 2 Glycogen Storage Disease

A

Pompe Disease, however lysosomal storage disease
deficiency of lysosomal acid alpha1-4-glucosidase
infantile, juvenile and adult forms

49
Q

Type 5 Glycogen Storage Disease

A

McArdle Disease
deficiency of muscle phospharylase
rhabdo after exercise, often 20s-30s

50
Q

deficit of glucose-6-phosphatase

A

T1 GSD/von Gierke Disease

51
Q

deficiency of lysosomal acid alpha1-4-glucosidase

A

Pompe Disease/GSD T2

52
Q

Infantile Pompe Disease

A

cardiomegaly, hypotonia and death before 1 year

HCM

53
Q

deficiency of muscle phospharylase

A

McArdle Disease, GSD T5

54
Q

Most common lysosomal storage disease?

A

Gaucher Syndrome

55
Q

Types of Gaucher Disease

A

Type 1 - most common, Ashkenzai Jews (no CNS)
Type 2 - Acute Neuronopathy (CNS)
Type 3 - Subacute neuronopathy (CNS)

56
Q

deficiency of lysosomal glucocerebrosidase

A

Gaucher Disease

57
Q

Type 1 Gaucher Disease Presentation

A

splenomegaly, abdominal protruberance –> thrombocytopenia

Growing pains

58
Q

Galactokinase Deficiency presentations

A

cataracts (nothing else!)

59
Q

Triad of carboxylase deficiency (biotinidase or holocarboxylase sythentase deficiency)

A

encephalopathy
alopecia
skin rash

60
Q

Niemann-Pick Disease Deficiency of

A

A, B - spingomyelinase (lysosomal storage)

C - buildup of GM2 gangliosidosis / cholesterol accumulation (not lysosomal storage!)

61
Q

Niemann Pick C Clinical Presentation

A

3-5 years with poot school performance and impaired motor skills (ataxia)
supranuclear vertical-gaze palsy/dolls eye reflex preserved
C’s; cholesterol, childhood alzheimers (dementia), Can’t C Up and Down (vertical gaze palsy)

62
Q

PKU - Genetics

A

AR

phenylalanine cannot be converted to tyrosine

63
Q

PKU - Symptoms/Presentation

A

intellectual disabsility
vomitting in childhood
mousy or wolflike odor
fair haired, fair skinned

64
Q

Maternal PKU

A

presents similar to FAS

65
Q

3 Branched Chain Amino Acids

A

Valine, leucine, isoleucine

66
Q

odor of mousy/wolf-like

A

PKU

67
Q

odor of sweaty feet

A

Isovaleric Acidemia

68
Q

Leesch-Nyhan Syndrome

A

X-linked HGPRT deficiency

FTT, self-mutilation

69
Q

MCAD symptoms

A

first 2 years of life: fasting induced lethargy and hypoglycemia, arrythmias
evlevated C6 and C8 esters

70
Q

VCLAD Deficiency

A

infancy: arrhythamis, CM, death

C14-18 esters

71
Q

LCHAD Deficiency

A

cholestatlic liver disease

retinopathy with hypopigementation

72
Q

Galactosemia at risk for what infection

A

E coli sepsis

73
Q

Galactosemia is a deficiency of

A

GALT, galactose can’t be metabolized

74
Q

Galactoasemia presentation

A

first few days of life with jaundice, HSM, vomiting, seizures
Cataracts, vitreous hemorrhage

75
Q

Kearns-Sayre and Chronic Progressive External Ophthalmoplegia (CPEO) Syndrome

A

ptosis
ophthalmoplegia
ragged-red fiber myopathy

76
Q

Fabry Disease

A 
Febrile episodes, foam cells
Angiokeratomas, alpha galactosidase
Burning pain in hands and feet
Renal Failure
YX, male, X-linked
CV disease
77
Q

Tay Sachs Genetics

A

AR, mutation in HEXA gene
distruption of enzyme B-hexoasminadase A
build up of GM2 gandlioside

78
Q

Tay Sachs Infantile Form presentation

A

first few months of life
enhanced startle reflex
cherry-red spot
progressive loss of motor skills

79
Q

Sanfilippo Syndrome

A

MPS Type 3

severe CNS involvement

80
Q

sweet urine smell

A

MSUD

81
Q

MSUP genetics

A

defect in deoxycarboxylation of ketoacids

HAGMA and increased BCAA

82
Q

MSUD presentation

A

early in infancy, quickly declines with death in 2-4 weeks

sweet smell

83
Q

Homocystinuria characteristics

A

marfinoid habitus
downwards lens dislocation
increased risk of thromboembolism

84
Q

Homocytinuria treatment

A

pydrixodine

85
Q

Urea cycle disorders present with

A

elevated ammonia, low BUN, respiratory alkalosis

86
Q

Glutaric Acidemia Type I

A

subdural hematomas and retinal hemorraghes (looks like child abuse)

87
Q

Communicating Hydrocephalus common in

A

Hunter Syndrome

88
Q

Finding of L-isoalloleucine

A

MSUD

89
Q

Tyrosinemia

A

accumulation of succinylacetone
Rickets, RTA
Renal and Liver Failure without hypoglycemia

90
Q

OTS (ornithine transcarbamylase def) versus CPS (carbamoyl phosphate synthetase 1)

A

Orotic acid HIGH in OTC

low in CPS

91
Q

Hunter Syndrome complication later in life

A

cardiac

92
Q

ADHD with hyperpigmentation, think

A

adrenaleukodystrophy (very long chain fatty acid)

93
Q

Glycogen Storage Disease Mnemonic

A 
Villanous President Called and Molested Here
1 Von Gierke
2 Pompe
3 Cori
4 Andersone
5 McArdle
6 Hers

Peds Boards (21 decks)

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