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Pediatrics > Metabolic deficiencies > Flashcards

Metabolic deficiencies Flashcards

1
Q

Unstable repeat sequences

A

Specific nucleotide copies within a gene increases resulting in increased disease severity

Huntington’s, Fragile X

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2
Q

Uniparental disomy

A

Both members of a chromosome or gene pair are inherited from one parent

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3
Q

Genomic imprinting

A

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

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4
Q

Malformation

A

Intrinsically abnormal process forms an abnormal tissue

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5
Q

Deformatin

A

Mechanical forces exerted on normal tissue resort in abnormal tissues

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6
Q

Disruption

A

Normal tissue becomes abnormal after being subjected to disruptive forces

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7
Q

Syndrome

A

Collection of seemingly unrelated abnormal features occur in a familiar pattern

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8
Q

AFP, unconjugated estriol, and B-hCG in Down’s

A

Decaeased AFP

Decreased estriol

Increased B-hCG

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9
Q

Marfan’s Syndrome

A

AD disorder due to defective fibrillin gene on Cr. 15

S/S: 
   Tall stature w/ elongated fingers  
   Decreased U/L ratio 
   ***Upward lens subluxation 
   ***Aortic root dilatation, MVP, aortic regurg.

Comps: HTN =» AORTIC DISSECTION

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10
Q

Prader-Willi Syndrome

A

Genomic imprinting caused by the absence of the paternally inherited gene on Cr. 15

S/S:
   Almond-shaped eyes 
   Fish-like mouth downturned) 
   FTT in first year of life 
   ***Hyperphagia in childhood 
   Hypotonia 
   MR 
   Hypogonadism

-Obesity can lead to obstructive sleep apnea (childhood) and cardiac disease (adults)

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11
Q

Happy puppet syndrome

A

Angelman Disease; caused by genomic imprinting and loss of maternally inherited gene on Cr. 15

S/S:
   Jerky arm movements
   Ataxia
   ***Inappropriate laughter 
   ***Severe MR 
   Small head, large mouth w/ widely spaced teath, blonde hair, blue eyes
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12
Q

Male version of Turner Syndrome

A

Noonan syndrome; **(AD) gene on Cr. 12

S/S: 
   Short webbed neck 
   Shield chest 
   Short statue 
   ***Right sided heart lesions
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13
Q

Most common cardiac issue w/ Noonan syndrome

A

Pulmonary stenosis

right sided heart lesion

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14
Q

CATCH-22

A

Cardiac anomaly

Abnormal facies

Thymic hypoplasia

Cleft palate

Hypocalcemia

22q11 chromosomal defect

-Describes a combination of DiGeorge Syndrome and Velocardial syndrome

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15
Q

DiGeorge Syndrome

A

Defect in the structures derived from the 3rd and 4th pharyngeal pouches

S/S:
Short palpebral fissures, small chin, low ears (craniofacial probs)
Aortic arch anomalies, TOF, VSDs (cardiac)
Thymus and parathyroid hypoplasia

Comps: Infnx, seizure

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16
Q

Velocardiofacial syndrome

A

Neurologic findings of neonatal hypotonia, learning disabilities

Cardiac findings of VSDs, right-sided arches

Facial findings of cleft palate, fish-shaped mouth, wide and prominent nose

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17
Q

Ehlers-Danlos Syndrome

A

Type V collagen defect

S/S:
   Hyperextensible joints 
   Loose, fragile skin =>> Tissue-paper thin scars 
   MVP, fragile blood vessels 
   Constipation, rectal prolapse
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18
Q

Osteogenesis Imperfecta

A

Type I collagen synthesis prob

S/S: 
   Blue sclerae 
   Fragile bones (genu valgum, scoliosis, fractures)
   Gray teeth 
   Easy bruising

Comps: ***Conductive hearing loss

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19
Q

VACTERL association

A 
Vertebral defects
Anal atreia
Cardiac anomalies (VSDs) 
TE
Renal and genital defects 
Limb defects (radial hypoplaia, syndactyly)
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20
Q

CHARGE association

A 
Colobomas  (absence of ocular tissue, usually the retina) 
Heart defects (TOF) 
Atresia of the nasal choanae 
Retardation of growth and cognition 
Genital anomalies 
Ear abnormalities (hearing loss)
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21
Q

Cocktail party personality

A

Williams Syndrome; (AD) deletion on chromosome 7

S/S:
Elfin facies (flat nasal bridge, short palpebral fissures)
MR and loquacious personality
Supravalvular aortic stenosis
Idiopathic hypercalcemia in infancy
CT abnormalities =» hoarse voice, hernias

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22
Q

Child with synophrys and short stature

A

Cornelia de Lange syndrome

S/S: 
   FTT
   Single eyebrow (synophrys) 
   Thin, downturned lip 
   Infantile hypertonia 
   MR 
   Small hands and feet 
   Autistic features
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23
Q

Small-triangular fafce, limb asymmetry, and Cafe-au-lait spots

A

Russel-Silver Syndrome

-Kids also have excessive sweating and short stature

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24
Q

Micrognathia, cleft lip/palate, large protruding tongue

A

Pierre-Robin Synrome

-have recurrent otitis media and upper airway obstruction often requiring tracheostomy

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25
Q

Cri du chat Syndrome

A

Partial deletion of chromosome 5; sporadic

S/S: 
   Microcephaly 
   Downslanting palpebral fissures 
   Catlike cry 
   MR 
   Hypertelorism
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26
Q

Complications assoc. w/ Downs

A

Atlantoaxial cervical spine instability (20%)

ALL

Celiac disease

Early Alzheimer’s

Hypothyroidism

Cataracts, glaucoma

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27
Q

GI features of Down’s

A

Hirschsprung’s

Duodenal ATRESIA

Pyloric stenosis

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28
Q

Second most common trisomy syndrome

A

Trisomy 18 (Edward’s Syndrome)

  • Defined by MR, hypertonia of the lower extremities, small facial features, rocker bottom feet, clenched hands
  • 95% die within one year
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29
Q

Patau Syndrome

A

Holoprosencephaly, severe MR, seizures, cleft palate/lip

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30
Q

Syndrome to consider in any female w/ developmental delay

A

Turner Syndrome

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31
Q

MCC of male hypogonadism and infertility

A

Klinefelter’s Syndrome

-Variable intelligence, tall, gynecomastia, possible antisocial behavior

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32
Q

Rhizomelia

A

Proximal bone abnormalities

-Short humerus, femur

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33
Q

Mesomelia

A

Medial long bone abnormalities

Short ulna and tibia

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34
Q

Acromelia

A

Distal abnormalities

Small hands and feet

35
Q

Abnormalities of the spine

A

Spondylodysplasia

36
Q

MC skeletal dysplasia

A

Achondroplasia (AD), although most cases are actually sporadic

  • Megalencephaly, ***foramen magnum stenosis, frontal bossing, midface hypoplasia
  • Lumbar kyphosis in infancy; lordosis as adult
  • Rhizomelic limb shortening, bowed legs
  • Trident shaped hands

**Recurrent otitis media w/ conductive hearing loss

37
Q

Severe complication w/ Achondroplasia

A

Foramen magnum stenosis =» hydrocephalus and spinal cord compression

  • May present as head sweating and dilated facial veins
  • Causes SUDDEN INFANT DEATH
38
Q

POTTER Syndrome

A 
Pulmonary hypoplasia 
Oligohydramnios
Twisted face
Twister Skin 
Extremity defects
Renal agenesis (BILATERAL)
39
Q

Amniotic band syndrome

A

Occurs as a result of rupture of the amniotic sac where small bands of amnion wrap around the fetus causing limb scarring and amputation

40
Q

Most common teratogen

A

Alcohol

CFs: 
   SGA at birth 
   FTT
   Microcephaly
   Smooth philtrum 
   MR 
   VSD
41
Q

Cigarette as a teratogen

A

Causes SGA, polycythemia

42
Q

Cocaine as a teratogen

A

Causes IUGR, microcephaly, GU tract abnormalities

43
Q

DES as a teratogen

A

Increased risk of cervical carcinoma, GU abnormalities

44
Q

Isotretinoin as a teratogen

A

CNS malformations, microtia, cardiac defects, thymic hypoplasia

45
Q

Phenytoin as a teratogen

A

MR
Cardiac defects
Nail and digit hypoplasia

46
Q

PTU as a teratogen

A

Hypothyroidism, goiter

47
Q

Thalidomide as a teratogen

A

Phocomelia (malformed, flapper like appendages)

48
Q

Valproic acid as a teratogen

A

Narrow head, high forehead, midface hypoplasia, spina bifida, cardiac defects, convex nails

49
Q

Warfarin as a teratogen

A

Hypoplastic nose, stippling of the epiphyses, hypoplastic nails

50
Q

Most common congenital anomalies of the nervous system

A

Neural tube defects

51
Q

IEMs can present similar to what serious condition?

A

Sepsis

52
Q

Management of acidosis

A

Sodium bicarbonate

53
Q

Management of hyperammonemia

A

Sodium benzoate and Sodium phenylacetate

-Increases NH3 excretion

54
Q

Homocystinuria

A

AR deficiency of cystathionine synthase

CFs:
Marfanoid body habitus w/o arachnodactyly
**Downward lens subluxation
**Hypercoagulable state (stroke, DVT, MI)
Scoliosis
Cardiac left sided Regurgitations
Mild MR

***Dx: Increased URINE METHIONINE

Tx: Methionine-restricted diet, aspirin, folic acid and B6 supplementation

55
Q

PKU

A

AR condition

CFs: 
   Progressive MR 
   ***MOUSY ODOR
   Decreased eye and hair pigmentation 
   Eczema

Dx: Increased SERUM phenylalanine:tyrosine ratio

Tx: Phenyalanine restricted diet
-Good prognosis if started in first month of life

56
Q

Maple Syrup Urine Disease

A

AR

CFs: 
   Lethargy, hypotonia, coma
   Maple syrup odor to urine 
   Hypoglycemia 
   Severe acidosis

Dx: Increased urine branched-chain AAs

Tx: Dietary protein restriction
-If restricted in first 2 weeks of life, no neuro damage

57
Q

Tyrosinemia Type I

A

AR

CFs: 
   Episodic peripheral neuropathy 
   Chronic liver disease 
   ***ROTTEN CABBAGE ODOR 
   Renal tubular dysfnxn

Dx: Succinylacetone in URINE

Tx: Dietary restriction of phenylalanine, tyrosine
***Liver transplant

***INCREASED RISK OF HEPATOCELLULAR CARCINOMA AND CIRRHOSIS

58
Q

Transient tyrosinemia of the newborn

A

Occurs in premies w/ high protein diets

CFs: Poor feeding, lethargy

Dx: Elevated serum tyrosine and phenylalanine

Tx: Self-limiting, Vitamin C helps eliminate tyrosine

59
Q

Cystinuria

A

AR disorder caused by defect in renal reabsorption of

Cystine
Ornithine
Lysine
Arginine

CFs: UTIs, abdominal/back pain, dysuria

60
Q

Hartnup disease

A

AR disease caused by defect in the transport of neutral AAs

CFs: Photosensitive rash, intermittent ataxia, MR

-May be asymptomatc

61
Q

Self-limited disease in newborns w/ respiratory distress, alkalosis, lethargy, and increased NH3 levels

A

Transient hyperammonemia of the newborn

  • Aggresive tx. required to prevent neurologic sequelae
  • Use Sodium benzoate and sodium phenylacetate
62
Q

Most common urea cycle defect

A

Ornithine transcabamylase deficiency ****(XLR)

CFs:
Vomiting, lethargy

Dx: Elevated urine orotic acid
Decreased serum citrulline
Increased serum ornithine

Tx: Low protein diet + hyperammonemia management

63
Q

Disorder to suspect in any infant w/ hepatomegaly and hypoglycemia

A

Galactosemia

AR deficiency of galactose-1-phosphate uridyltransferase

CFs:
   Begins after a newborn feeds on cow's milk 
   Vomiting, diarrhea, FTT 
   Hepatomegaly
   Catarcts w/ "Oil-droplet appearance" 
   RTA

Dx: Positive clinitest (nonreducing sugars)

Tx: Galactose free diet

64
Q

Complications w/ galactosemia

A

Newborns: Sepsis from E. coli

Females: Ovarian failure

MR if diagnosis is delayed

65
Q

Hereditary fructose intolerance

A

Deficiency of fructose-1-phosphate aldolase B

CFs:
Begins after infant first feeds on fruit juice
FTT, vomiting, diarrhea, seiure

Tx: Avoid fructose, sucrose, sorbitol

66
Q

Von-Gierke’s Disease

A

AR deficiency of glucose-6-phosphatase

CFs: H
   Hypoglycemia 
   Hepatomegaly
   Metabolic acidosis
   Hypertriglyceridemia

Tx: Carb-free diet

**Increased risk for hepatocellular carcinoma

67
Q

Disease to suspect in any infant w/ muscular weakness and cardiomegaly

A

Pompe’s Disease

Deficiency of a-glucosidase

CFs: In the first two weeks of life...
   Flaccid weakness
   Poor feeding 
   Progressive cardiomegaly 
   Hepatomegaly
   Acidosis
68
Q

Most common fatty acid oxidation disorder

A

Medium-chain acyl-CoA dehydrogenase deficiency

Tx: High-carb, low-fat die

69
Q

Kearns-Sayre syndrome

A

Opthalmoplegia
Retinal pigmentary degeneration
Hearing loss
Neurologic deterioration

70
Q

MELAS

A

Mitochondrial Encephalopathy
Lactic Acidosis
Strokelike episodes

-Suspect mitochondrial disorders if a common disease has an atypical presentation or involves >3 organ systems

71
Q

Infantile Tay-Sach’s Disease

A

AR deficiency of hexosaminidase A

CFs:
   Decreasing eye contact, hypotonia, motor weakness
   HYPERACUSIS 
   Macrocephaly 
   CHERRY-RED MACULA 
   Severe developmental delay

Death by 4 yrs of age

72
Q

Juvenile/Adult-onset Tay-Sach’s Disease

A

Begins after 2 years of age

CFs: Ataxia, dysarthria, choreoathetosis

*ABSENT cherry red macula

73
Q

Most common gangliosidosis

A

Gaucher’s Disease; (AR) deficiency of glucocerebrosidase

CFs:
Hepatosplenomegaly
Thrombocytopneia
Erlenmeyer-shaped femur

Tx: Enzyme replacement

74
Q

Niemann-Pick Disease

A

Sphingomyelinase deficiency

CFs:
   Progressive neurodegeneration
   Hepatosplenomegaly
   Ataxia, seizure 
   Cherry-red macula

Death by 4 years of age

75
Q

Metachromatic leukodystrophy

A

Arylsulfatase A deficiency

CFs:
Ataxia, seizure, progressive MR

Death by 10-20 years of age

76
Q

Dystosis multiplex

A

Constellation of bony abnormalities:

Thickened cranium

J-shaped sella turcia

Beak-like vertebrae

Short-thickened clavicles

*****Presents w/ mucopolysaccharidoses alongside MR, organomegaly

77
Q

Most severe mucopolysaccharidosis

A

Hurler Syndrome; (AR) deficiency of a-L-iduronidase

CFs: Begin after 1 year of age...
   Hepatosplenomegaly
   Kyphosis 
   Coarsened facial features 
   ***CORNEAL CLOUDING 
   Stiff, contracted joints

Dx: Dermatan and heparan sulfate in urine
Decreased a-L-iduronidase activity in PMNs

Tx: BM transplant

78
Q

XLR mucopolysaccharidosis

A

Hunter Syndrome

CFs:
Hepatosplenomegaly
Hearing loss
Dystosis multiplex

Dx: Increased dermatan and heparan sulfate in urine

Tx: None; death by 20

79
Q

AR mucopolysaccharidosis characterized by severe mental and motor retardation

A

Sanfilippo syndrome

80
Q

Mucopolysaccharidosis w/o MR but severe scoliosis compromising respiratory fnxn by 40 years of age

A

Morquio syndrome

81
Q

Diagnosis of porphyrias

A

Increased serum and urine porphobilinogen

82
Q

Wilson’s Disease

A

AR defect in copper excretion

CFs:
Kayser-Fleischer rings (copper deposited in DESCEMET’s MEMBRANE)
Dysarthria, tremors, ataxia, weirdness
Hepatic dysfnxn

Dx: Decreased ceruloplasmin
Increased serum and urine copper

Tx: Avoid copper containing food (nuts, liver, chocolate) and chelation w/ penicillamine

83
Q

Menke’s Kinky Hair Disease

A

XLR disorder caused by abnormal copper transport

CFs: 
   Myoclonic seizure 
   Pale, kinky, and friable hair
   Optic nerve atrophy 
   Sever MR

Dx: Low serum copper and ceruloplasmin

Pediatrics (9 decks)

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