peds14 Flashcards
mesomelia
medial long bone abnormalities (ulna and tibia)
acromelia
distal abnormalities (small hands and feet)
spondylodysplasia
abnormalities of the spine, with or without limb abnormalities
most common skeletal dysplasi
achondrolasia
achondroplasia is what?
rhizomelia; inheritance is AD, but most cases are sporatic; caused by mutation in the FGFR 3 gene
clinical features of achondroplasia
craniofacial include megalencephaly (large brain), foramen magnum stenosis, frontal bossing, midface hypoplasia, and low nasal bridge
skeletal findings in achondroplasia
lumbar kyphosis that evolves into lumbar lordosis; rhizomelic lmb shortening; trident shaped hands; recurrent otitis media w conductive hearing loss
complications of achondroplasia
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
potter syndrome
caused by severe oligohydramnios which causes lung hypoplasia and fetal compression with limb abnormalities and facial features
amniotic band syndrome
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
fetal alcohol syndrome
SGA, FTT, microcephaly, long smooth philtrum with a thin, smooth upper lip; ADHD; mental retardation, and cardiac defects (VSD most common)
fetal phenytoin syndrome
mental retardation; cardiac defects, growth retard, nail and digit abnormalities; characteristic facial features
anomalies associated with cigarette smoking
SGA, polycythemia
anomalies assoc with cocain
IUGR, microcephaly, GU abnormalities
abnormalities assoc with DES
cervical cancer, GU abnormalities
isotretinoin- abnormalities assoc with
CNS issues, cardiac issues, thymic hypoplasia
phenytoin-associated abnormalities
wider anterior fontanelle; thick hair with low hairline; small nails, cardiac defect
PTU associated with what defects
hypothyroidism, goiter
Thalidomide associated with
phocomelia (malformed extremities resulting in flipper like appendages)
valproic acid
narrow head, high forehead, midface hypoplasia, spina bifida, cardiac defects, convex nails
warfarin
hypoplastic nose with a deep goroove between the nasal alaeand the nasal tip, stippling of the epiphyses
chronic progressive symptoms (in a baby with IEM) points to what?
mitochondrial disorders
presenting symptoms of IEM might be similar to what?
sepsis
initial lab eval for suspected IEM
assessment for metabolic acidosis and elevated serum ammonia
FAO defect, then avoid what?
lipids
how to correct acidosis?
sodium bicarb
how to correct hyperammonemia?
sodium benzoate and sodium phenylacetate increase ammonia excretion
oral neosporin and lactulose
prevent bacterial production of ammonia in the colon
if all else fails, how do you correct electrolyte abnormalities?
dialysis
mousy/musty odeor
phenylketonuria (PKU)
sweet maple syrup odor
maple syrup urine disease
sweaty feet odor
isovaleric or glutaric acidemia
rotten cabbage odor
hereditary tyrosinemia
presence of ketones in the urine of newborns
is very suspicious for IEM because normally newborns do not make ketones very well
absence of ketones in the urine of older children
absence of ketones and hypoglycemia is suspicious for FAO defect
if urine reducing substance is positive, then what?
dipstick for glucose; if glucose neg, then possibly galactosemia
if metabolic acidosis is presnt, what tests do you run
serum lactat and pyruvate looking for lactic acidemia or organic acidemia; also check for plasma Aas to rule or aminoacidemias or organic acidemias
if incr ammonia is present, what labs do you run?
plasma Aas and urine organic acids (if elevated orotic acid, suspect OTC def)
homocysteinuria caused by defect in what
cystathionine synthase
clinical features of homocysteinuria
marfanoid body habitus without arachnodactyly; downward lens subluxation (as opposed to up in marfans); hypercoaguable; CV abnormalities; scoliosis, developmental delay
how to dx homocysteinuria
increased methionine in urine and plasma or pos urinary cyanid e nitroprusside test
management of homocystienuria
methionine restricted diet, aspirin, and folic acid and vit B6 supp
transient tyrosinemia of the newborn
occurs in premature infants w high protein diets; poor feeding or lethargy
dx of transient tyrosinemia of the newborn
elevated serum tyrosine and phenylalanine
management of transient tyrosinemia of the new born
decreasing protein intake during the acute episode; vit C may help elminiate tyrosine
prognosis of transient tyrosinemia of the newborn
good; self-limited disease that resolves within 1 month
cystinuria
defect in renal reabsoption of cstine, lysine, arginine, and ornithine that leads to renal stones;
clinical features of cystinuria
UTI, dysuria, abdominal or back pain, urgency and urinary frequency
Hartnup disease
defect in transport of neutral Aas; most are asymptomatic
urea cycle defects manifested ow?
elevated ammonia over 200 micromolar
