peds14

Question 1

mesomelia

Answer 1

medial long bone abnormalities (ulna and tibia)

Question 2

acromelia

Answer 2

distal abnormalities (small hands and feet)

Question 3

spondylodysplasia

Answer 3

abnormalities of the spine, with or without limb abnormalities

Question 4

most common skeletal dysplasi

Answer 4

achondrolasia

Question 5

achondroplasia is what?

Answer 5

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

Question 6

clinical features of achondroplasia

Answer 6

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

Question 7

skeletal findings in achondroplasia

Answer 7

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

Question 8

complications of achondroplasia

Answer 8

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

Question 9

potter syndrome

Answer 9

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

Question 10

amniotic band syndrome

Answer 10

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

Question 11

fetal alcohol syndrome

Answer 11

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

Question 12

fetal phenytoin syndrome

Answer 12

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

Question 13

anomalies associated with cigarette smoking

Answer 13

SGA, polycythemia

Question 14

anomalies assoc with cocain

Answer 14

IUGR, microcephaly, GU abnormalities

Question 15

abnormalities assoc with DES

Answer 15

cervical cancer, GU abnormalities

Question 16

isotretinoin- abnormalities assoc with

Answer 16

CNS issues, cardiac issues, thymic hypoplasia

Question 17

phenytoin-associated abnormalities

Answer 17

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

Question 18

PTU associated with what defects

Answer 18

hypothyroidism, goiter

Question 19

Thalidomide associated with

Answer 19

phocomelia (malformed extremities resulting in flipper like appendages)

Question 20

valproic acid

Answer 20

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

Question 21

warfarin

Answer 21

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

Question 22

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

Answer 22

mitochondrial disorders

Question 23

presenting symptoms of IEM might be similar to what?

Answer 23

sepsis

Question 24

initial lab eval for suspected IEM

Answer 24

assessment for metabolic acidosis and elevated serum ammonia

Question 25

FAO defect, then avoid what?

Answer 25

lipids

Question 26

how to correct acidosis?

Answer 26

sodium bicarb

Question 27

how to correct hyperammonemia?

Answer 27

sodium benzoate and sodium phenylacetate increase ammonia excretion

Question 28

oral neosporin and lactulose

Answer 28

prevent bacterial production of ammonia in the colon

Question 29

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

Answer 29

dialysis

Question 30

mousy/musty odeor

Answer 30

phenylketonuria (PKU)

Question 31

sweet maple syrup odor

Answer 31

maple syrup urine disease

Question 32

sweaty feet odor

Answer 32

isovaleric or glutaric acidemia

Question 33

rotten cabbage odor

Answer 33

hereditary tyrosinemia

Question 34

presence of ketones in the urine of newborns

Answer 34

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

Question 35

absence of ketones in the urine of older children

Answer 35

absence of ketones and hypoglycemia is suspicious for FAO defect

Question 36

if urine reducing substance is positive, then what?

Answer 36

dipstick for glucose; if glucose neg, then possibly galactosemia

Question 37

if metabolic acidosis is presnt, what tests do you run

Answer 37

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

Question 38

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

Answer 38

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

Question 39

homocysteinuria caused by defect in what

Answer 39

cystathionine synthase

Question 40

clinical features of homocysteinuria

Answer 40

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

Question 41

how to dx homocysteinuria

Answer 41

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

Question 42

management of homocystienuria

Answer 42

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

Question 43

transient tyrosinemia of the newborn

Answer 43

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

Question 44

dx of transient tyrosinemia of the newborn

Answer 44

elevated serum tyrosine and phenylalanine

Question 45

management of transient tyrosinemia of the new born

Answer 45

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

Question 46

prognosis of transient tyrosinemia of the newborn

Answer 46

good; self-limited disease that resolves within 1 month

Question 47

cystinuria

Answer 47

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

Question 48

clinical features of cystinuria

Answer 48

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

Question 49

Hartnup disease

Answer 49

defect in transport of neutral Aas; most are asymptomatic

Question 50

urea cycle defects manifested ow?

Answer 50

elevated ammonia over 200 micromolar