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Peds > peds14 > Flashcards

peds14 Flashcards

1
Q

mesomelia

A

medial long bone abnormalities (ulna and tibia)

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2
Q

acromelia

A

distal abnormalities (small hands and feet)

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3
Q

spondylodysplasia

A

abnormalities of the spine, with or without limb abnormalities

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4
Q

most common skeletal dysplasi

A

achondrolasia

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5
Q

achondroplasia is what?

A

rhizomelia; inheritance is AD, but most cases are sporatic; caused by mutation in the FGFR 3 gene

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6
Q

clinical features of achondroplasia

A

craniofacial include megalencephaly (large brain), foramen magnum stenosis, frontal bossing, midface hypoplasia, and low nasal bridge

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7
Q

skeletal findings in achondroplasia

A

lumbar kyphosis that evolves into lumbar lordosis; rhizomelic lmb shortening; trident shaped hands; recurrent otitis media w conductive hearing loss

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8
Q

complications of achondroplasia

A

foramen magnum stenosis may lead to hydrocephalus or cord compression; SIDS may occur as a result of cord compression; obstructive sleep apnea; severe bowed legs and back pain

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9
Q

potter syndrome

A

caused by severe oligohydramnios which causes lung hypoplasia and fetal compression with limb abnormalities and facial features

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10
Q

amniotic band syndrome

A

aka amnion rupture sequence; occurs as a result of rupture of amniotic sac; small strands from the amnion may wrap around the fetus causing limb scarring and amputation

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11
Q

fetal alcohol syndrome

A

SGA, FTT, microcephaly, long smooth philtrum with a thin, smooth upper lip; ADHD; mental retardation, and cardiac defects (VSD most common)

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12
Q

fetal phenytoin syndrome

A

mental retardation; cardiac defects, growth retard, nail and digit abnormalities; characteristic facial features

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13
Q

anomalies associated with cigarette smoking

A

SGA, polycythemia

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14
Q

anomalies assoc with cocain

A

IUGR, microcephaly, GU abnormalities

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15
Q

abnormalities assoc with DES

A

cervical cancer, GU abnormalities

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16
Q

isotretinoin- abnormalities assoc with

A

CNS issues, cardiac issues, thymic hypoplasia

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17
Q

phenytoin-associated abnormalities

A

wider anterior fontanelle; thick hair with low hairline; small nails, cardiac defect

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18
Q

PTU associated with what defects

A

hypothyroidism, goiter

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19
Q

Thalidomide associated with

A

phocomelia (malformed extremities resulting in flipper like appendages)

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20
Q

valproic acid

A

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

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21
Q

warfarin

A

hypoplastic nose with a deep goroove between the nasal alaeand the nasal tip, stippling of the epiphyses

22
Q

chronic progressive symptoms (in a baby with IEM) points to what?

A

mitochondrial disorders

23
Q

presenting symptoms of IEM might be similar to what?

A

sepsis

24
Q

initial lab eval for suspected IEM

A

assessment for metabolic acidosis and elevated serum ammonia

25
Q

FAO defect, then avoid what?

A

lipids

26
Q

how to correct acidosis?

A

sodium bicarb

27
Q

how to correct hyperammonemia?

A

sodium benzoate and sodium phenylacetate increase ammonia excretion

28
Q

oral neosporin and lactulose

A

prevent bacterial production of ammonia in the colon

29
Q

if all else fails, how do you correct electrolyte abnormalities?

A

dialysis

30
Q

mousy/musty odeor

A

phenylketonuria (PKU)

31
Q

sweet maple syrup odor

A

maple syrup urine disease

32
Q

sweaty feet odor

A

isovaleric or glutaric acidemia

33
Q

rotten cabbage odor

A

hereditary tyrosinemia

34
Q

presence of ketones in the urine of newborns

A

is very suspicious for IEM because normally newborns do not make ketones very well

35
Q

absence of ketones in the urine of older children

A

absence of ketones and hypoglycemia is suspicious for FAO defect

36
Q

if urine reducing substance is positive, then what?

A

dipstick for glucose; if glucose neg, then possibly galactosemia

37
Q

if metabolic acidosis is presnt, what tests do you run

A

serum lactat and pyruvate looking for lactic acidemia or organic acidemia; also check for plasma Aas to rule or aminoacidemias or organic acidemias

38
Q

if incr ammonia is present, what labs do you run?

A

plasma Aas and urine organic acids (if elevated orotic acid, suspect OTC def)

39
Q

homocysteinuria caused by defect in what

A

cystathionine synthase

40
Q

clinical features of homocysteinuria

A

marfanoid body habitus without arachnodactyly; downward lens subluxation (as opposed to up in marfans); hypercoaguable; CV abnormalities; scoliosis, developmental delay

41
Q

how to dx homocysteinuria

A

increased methionine in urine and plasma or pos urinary cyanid e nitroprusside test

42
Q

management of homocystienuria

A

methionine restricted diet, aspirin, and folic acid and vit B6 supp

43
Q

transient tyrosinemia of the newborn

A

occurs in premature infants w high protein diets; poor feeding or lethargy

44
Q

dx of transient tyrosinemia of the newborn

A

elevated serum tyrosine and phenylalanine

45
Q

management of transient tyrosinemia of the new born

A

decreasing protein intake during the acute episode; vit C may help elminiate tyrosine

46
Q

prognosis of transient tyrosinemia of the newborn

A

good; self-limited disease that resolves within 1 month

47
Q

cystinuria

A

defect in renal reabsoption of cstine, lysine, arginine, and ornithine that leads to renal stones;

48
Q

clinical features of cystinuria

A

UTI, dysuria, abdominal or back pain, urgency and urinary frequency

49
Q

Hartnup disease

A

defect in transport of neutral Aas; most are asymptomatic

50
Q

urea cycle defects manifested ow?

A

elevated ammonia over 200 micromolar

Peds (99 decks)

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