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Pediatrics > BRS- Metabolism > Flashcards

BRS- Metabolism Flashcards

1
Q

____ diseases are only seen in males.

____ are more severe in males.

A

XR- only males

XD- more severe in males

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2
Q

Gene pair inherited entirely from the same parent is called ____?

A

uniparental disomy

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3
Q

Gene defect expressed solely based on the sex of the parent passing on the defective gene

A

genomic imprinting

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4
Q

Chromosome deleted in both Prader Willi and Angelmans

A

chromosome 15, 11q

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5
Q

Three abnormalities of morphogenesis

  • intrinsic abnormality ?
  • mechanical forces?
  • destructive forces?
A
  • intrinsic: malformation
  • mechanical: deformation
  • destructive: disruption
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6
Q

Two causes of low AFP

A
  • trisomy

- overestimated GA

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7
Q

Causes of high AFP:

A
  • NTD
  • MFG
  • underestimated GA
  • abdominal wall defect
  • edema/skin abnormality
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8
Q

Triple mark screen levels in Down Syndrome?

A
  • low AFP, estriol

- High hCG

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9
Q

At what time in pregnancy are CVS and Amniocentesis performed?

A
  • CVS: 10-13 weeks

- Amniocentesis: 16-18 weeks

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10
Q

Marfans:

  • inheritance pattern
  • chromosome
  • gene
A
  • AD
  • chromosome 15
  • fibrillin
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11
Q

Marfans:

skeletal findings

A
  • tall
  • long fingers
  • decreased U/L segment ratio
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12
Q

Marfans:

most common cardiac and ocular findings

A
  • upward lens subluxation

- aortic root dilatation

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13
Q

Management of Marfans:

A
  • Bbers + sport avoidance to prevent aortic dissection
  • endocarditis prophylaxis
  • ophthalmic exams
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14
Q

Physical appearance of Prader Willis

A
  • FTT –> short + obese

- fish mouth, almond eyes

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15
Q

Prader Willis Neuro effects

A
  • retardation
  • hypotonia
  • learning/behavior disorder
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16
Q

GU abnormalities assc with Prader Willis

A

-small penis/testis
-hypogonadism
+/- cryptorchidism

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17
Q

Into late childhood/ adulthood, what complications are assc with Prader Willis?

A
  • OSA
  • CVD
  • DM2
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18
Q

Angelman Syndrome neuro features

A
  • jerky movements, ataxia
  • inappropriate laughter
  • mental retardation
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19
Q

Angelman Syndrome physical appearance

A
  • small head/ big mouth

- blond hair/ blue eyes

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20
Q

Male version of Turners Syndrome? _____

Assc chromosome _____

A

Noonans

chromosome 12

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21
Q

Appearance of Noonans patient

A
  • short, webbed neck
  • shield chest
  • low hairline
  • hypertelorism
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22
Q

Two heart defects assc with Noonans

A
  • right sided lesions

- pulm stenosis

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23
Q

Two disorders assc with chromosome 22q11

A
  • DiGeorge

- velocardiofacial syndrome

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24
Q

What does CATCH 22 stand for?

A
  • cardiac anomaly
  • abnormal face
  • thymic hypoplasia
  • cleft palate
  • hypocalcemia
  • 22 chromosome
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25
Q

Describe thymic abnormalities seen in DiGeorge

A

-no thymus/parathyroid=

immunodeficiency, hypocalcemia

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26
Q

Complication assc with hypocalcemia

A
  • tetany

- seziures

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27
Q

Cardiac effect assc with velocardiofacial syndrome

A
  • VSD

- right sided arch

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28
Q

Neuro findings in velocardiofacial syndrome

A
  • hypotonia

- perseverative behavior

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29
Q

Collagen type assc with Ehlers Danlos? OI?

A
  • ED: type V

- OI: type I

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30
Q

ED:

skin & joint findings

A
  • skin and joint hypermobility

- tissue paper thin scarring

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31
Q

CV and GI findings in ED

A
  • rectal prolapse
  • MVP
  • aortic dilatation
  • fragile vessels
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32
Q

Osteogenesis I:

  • describe eyes/teeth/ears
  • describe knee position
A
  • blue eyes, gray blue teeth, hearing loss

- genu valgum

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33
Q

List the VACTERL assc

A
  • vertebral defects
  • anal atresia
  • cardiac anomalies (VSD)
  • TE fistula
  • renal defects
  • limb defects
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34
Q

List the CHARGE assc

A
  • colobomas
  • heart defects
  • atresia of the nasal choanae
  • retardation
  • genital anomalies
  • ear anomalies
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35
Q

Williams syndrome:
chromosome
gene
inheritance pattern

A
  • chromosome 7
  • elastin
  • AD
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36
Q

Williams syndrome

  • appearance
  • neuro
A
  • elfin facies

- cocktail party personality, retardation

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37
Q

Williams syndrome

cardiac and endocrine findings

A
  • supravalvular AS

- idiopathic hypercalcemia

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38
Q

Cornelia de Lange Syndrome

-appearance

A
  • single eyebrow
  • short stature
  • microcephaly
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39
Q

Synophrys describes

A

single eyebrow

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40
Q

Cornelia de lange neuro sx

A
  • MR

- hypotonia

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41
Q

Russel Silver Syndrome:

appearance

A
  • short
  • assymetric skeleton
  • triangle face
  • café au lait spots
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42
Q

Pierre Robinson main symptoms

A
  • micrognathia
  • cleft lip and palate
  • tiny airways= otitis and URI
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43
Q

Cri du Chat:

  • chromosome
  • appearance
  • neuro
A
  • short arm chromosome 5
  • small head, hypertelorism
  • cat like cry, MR
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44
Q

What is the incidence of Downs Syndrome

A

1:660

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45
Q

Second most common trisomy + predominant sex

A

trisomy 18; females

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46
Q

Three features obvious in newborn with trisomy 18

A
  • scissoring
  • rockerbottom feet
  • clenched hands w/ overlapping digits
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47
Q

Trisomy 18 is assc with _______ defects of the head

A

midline

holoprosencephaly, cleft lip palate, microphthalmia/single eye

48
Q

Life expectancy in trisomy 13,18

A

18: 1 year
13: 1 month

49
Q

Cause of Turners Syndrome + incidence

A
  • single X

- 1:2k

50
Q

Key finding assc with Turners

A
  • ovarian dysgenesis/ pubertal delay

- aortic coarctation

51
Q

Four facial features assc with downs

A
  • brachycephaly
  • epicanthal folds
  • brushfield spots
  • protruding tongue
52
Q

MSK features of downs

A
  • wide space between first and second toes
  • single palmar crease
  • clinodactyly
53
Q

Four GI features of Downs

A
  • duodenal atresia
  • omphalocele
  • hirschsprungs
  • pyloric stenosis
  • celiacs
54
Q

Most common cardiac defects seen in downs

A

endocardial cushion defects

55
Q

Two diseases seen later in life assc with downs

A
  • ALL

- ALZ

56
Q

Sensory defects assc with Downs

A

-hearing/vision defects

57
Q

Endo defect assc with Downs

A

-hypothyroidism

58
Q

Most common inherited cause of retardation?

A

Fragile X, CGG repeats

59
Q

What is large in fragile X?

A

ears

testes

60
Q

Most common cause male hypogonadism

A

Klinefelters, XXY

61
Q

Klinefelters features

A
  • tall
  • hypogonad
  • gynecomastia
  • antisocial behavior
62
Q

Define rhiso/meso/acromelia

A
  • rhiso: proximal long bone short (humerus, femur)
  • meso: medial (ulna, tibia)
  • acro: distal (hands, feet)
63
Q

Most common skeletal dysplasia

A
  • achdondropalsia
  • AD
  • FGFR3
  • paternal age
64
Q

Craniofacial abnormalities in achondroplasia

A
  • megalencephaly
  • foramen magnum stenosis
  • risk cord compression
  • hearing loss (conductive)
65
Q

Skeletal findings in achondroplasia

A
  • rhizomelia
  • lumbar kyphosis –> lordosis
  • tident hands
66
Q

Fetal alcohol syndrome:

A
  • FTT
  • smooth philtrum
  • MR
  • cardiac defects
67
Q

Folic acid dosage to prevent NTD

A

-4-8g/day

68
Q

Risk of CHD in general population

A

-1%

69
Q

Fetal phenytoin syndrome

A
  • MR
  • cardiac
  • nail, digit, facial abnormalities
70
Q

Drug assc with phocomelia

A

thalidomide

71
Q

Signs of IEM:

A
  • seizures
  • developmental delay/FTT
  • vomiting
72
Q

Family history factors related to IEM

A
  • consanguinity
  • neonatal deaths
  • MR
  • unusual dietary preferences
73
Q

Labs for IEM

A
  • metabolic acidosis

- hyperammonemia

74
Q

Elevated ammonia suggests what disorders

Elevated urine reducing substances suggest

A

Ammonia: urea cycle

Urine reducing substance: galactosemia

75
Q

Homocystinuria cause

A

Cystathionine synthase deficiency

76
Q

Homocystinura = Marfans except

A

Hypercoagulable state
No aortic dilatation
Increased methionine
+urinary cyanide nitroprusside

77
Q

Treatment for homocystinuria

A
  • met restricted diet

- aspirin

78
Q

Transient tyrosinemia also involves elevated ______.
It lasts ______.
________ decreases tyrosine levels.

A

Phenylalanine
1 month
Vitamin C eliminates

79
Q

Cystinuria is failed reabsorption of what amino acids?

A

COLA

  • cystine
  • ornithine
  • lysine
  • arginine
80
Q

Hartnups Disease:
Cause
Symptoms

A

Failure of transport of neutral amino acids

Rash, MR, ataxia

81
Q

Transient hyperammonemia lasts how long?

Symptoms?

A
  • 24-48 hours of life

- alkalosis –> coma

82
Q

MC urea cycle deficit

Inheritance pattern

A

Ornithine transcarbamylase

XR

83
Q

Ornithine Transcarbamylase Def labs (3)

A

High ornithine, orotic acid

Low citrulline

84
Q

Cause of Galactosemia + two key symptoms

A

G1UDPiciency
Hepatomegaly
Hypoglycemia
After newborn first feeds

85
Q

Renal/ocular findings assc with galactosemia

A

RTA

Cataracts with oil droplet appearance

86
Q

Finding in females with galactosemia

A

Ovarian failure

87
Q

Cause of death in galactosemia patients

A

E. coli sepsis

88
Q

Deficiency assc with fructose intolerance

A

F1P aldolase B

89
Q

Glycogen storage disease two key findings

A

Organometallic

Metabolic acidosis

90
Q

Von Gierke cause

Pompes cause

A

VG/ I: G6P

Pompes/ II: a-glucosidase

91
Q

Which Glycogen Storage Disease is assc with hepatocellular carcinoma

A

Von Gierke

92
Q

Classic lab findings assc with fatty acid oxidation defects

A

Nonketotic hypoglycemia

Hyperammonemia

93
Q

Two clinical outcomes assc with fatty acid oxidation defects

A

Cardiomyopathy

Myopathy

94
Q

Most common fatty acid oxidation disorder

A

Medium chain acyl CoA dehydrogenase

95
Q

When should mitochondrial disorders be suspected

A
  • atypical presentation

- 3+ organ systems involved

96
Q

What does MELAS stand for?

A

Mitochondrial encephalopathy lactic acidosis strokes

97
Q

How to diagnose mitochondrial disorders

A

Tissue samples

98
Q

Tay Sachs + Guachers are what type of disorders

A

Lysosomal storage

99
Q

Gauchers deficiency
Tay Sachs deficiency
Neimann-Pick deficiency
Metachromatic leukodystrophy deficiency

A

Tay Sachs: hexosaminadase A
Gauchers: glucocerebridase
Neimann Pick: sphingomyelinase
Metachromatic leukodystrophy: arylsufatase A

100
Q

Gauchers & Tay Sachs & Neiman Pick:
Common feature
Distinguishing feature

A

All have cherry red macula
Gauchers & Neiman Pick: HSM
Neiman Pick: ataxia

101
Q

Key feature of juvenile onset Tay Sachs

A

Cherry red macula is absent

102
Q

Key finding in infantile Tay Sachs

A

Hyperacusis

103
Q

MSK finding assc with gauchers

A

Erlenmyer flask shaped distal femur

104
Q

Metachromatic Leukodystrophy:

Life expectancy

A

10-20 years

105
Q

Thickened cranium
J shaped sella turcica
Beak life vertebrate

Called?

A

Dysostosis multiplex –> characteristic of mucopolysaccharidoses

106
Q

What are the four mucopolysaccharidoses

A

Hunter
Hurler
Sanfilippo
Morquio

107
Q

A-iduronidase deficiency is assc with what mucopolysaccharidosis?

A

Hurler

108
Q

Hurler key symptoms

A

Corneal clouding

Coarse facial features

109
Q

How to diagnose hunters and hurlers syndrome

A

Heparin and dermatan sulfate in the urine

110
Q

Inheritance hunters vs hurlers

A

Hunters: XR
Hurlers: AR

111
Q

How is morquio different from other mucopolysaccharidoses?

A

No Mental retardation

–> scoliosis & cor pulmonale

112
Q

Porphyria pattern

A

Episodic and participated

113
Q

Porphyria clinical presentation

A
  • burgundy colored urine
  • colicky abdominal pain
  • autonomic instability
114
Q

How to diagnose porphyrias

A

Increased serum and urine porphobilinogen

115
Q

Wilson’s disease
Inheritance pattern
+ symptoms

A

AR

  • Kayser Fleischer rings
  • Hepatic dysfxn
  • Neuro changes
116
Q

Menkes kinky hair syndrome

  • Inheritance pattern
  • abnormal lab
  • PE findings
A
  • XR
  • low copper, ceruloplasmin
  • seizures, pale kinky friable hair

Pediatrics (12 decks)

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