Pediatric Lower GI CIS - Thieman/Brandau Flashcards
Case 3 day old M, no meconium pass, premature labor
- fam hx - CF and TEF
- lethargic, distended abdomen
- fused 3rd 4th digits
imperforate anus
acute medical needs - before surgery - infection
other anomalies to look for - VACTERL association
genetic syndrome
well characterized constellation of major and minor abnormalities that occur together in predictable fashion presumably due to single underlying etiology
ex/ trisomy 21 and klinefelters
genetic sequence
group of related anomalies that generally stems from single initial major anomaly that alters development of other surrounding tissues and structures
ex/ potters sequence
potters sequence
primary problem - renal agenesis
no amniotic fluid - face growth problems
genetic association
group of anomalies that occur more frequently together than would be expected by change but dont have predictable pattern of recognition or etiology
ex/ VACTERL assocation
VACTERL association
vertebral - spinal US/xray anal cardiac - do echo TEF - physical exam renal - renal US limb anomalies - physical exam/xray
vesicoureteral reflux
high percentage in kids with VACTERL
necrotizing eneterocolitis
with obstruction - distends - cuts off blood supply
look for gas bubbles in bowel wall**
wangenstein view
to see where gas is in pelvis
types of imperforate anus
high type - GI and GU fistula
low type - approach perineal - anoplasty
low imperforate anus
air down to perineum and cure with anoplasty
embryo of imperforate anus
failure of coacal membrane to involute
separate GI and GU tracts
female high type imperforate anus
protrudes high in vagina
male high type imperforate anus
protrudes in bladder/urethra
worry for infection**
high vs. low fistula with imperforate anus
high - no external sphincter muscle development
hard to get through these muscles and nerves
with imperforate anus
always a fistula
Case 3 day old not passed meconium
- bilious vomiting
- fam hx - CF
- distended abdomen, lethargic
- palpable fullness RLQ
likely CF
cystic fibrosis
pancreatic problems - hard time digesting things
auto recessive
most common fatal genetic disorders - even more in amish
baby taste salty
CFTR mutations
over 1000 mutations have been found
delta508 is common one - 70%
management of CF
multidisciplinary team approach
gastroenterologist, pulmonologist, nutritionist, social worker
soap bubble on abdominal xray
meconium ileus
do enema - that can actually break up the viscous stool
-gastrografin hypertonic with muclolytic agent**
gastrografin hypertonic enema wit mucloytic agent
works 60-70% with meconium ileus
so need surgeon around
Case 3 day old M not passed meconium, bilious vomiting, distended abdomen, lethargic
- low set ears and macroglossia
- passage of large amounts of flatus and meconium with finger withdrawal
hirschsprung disease
low set ears
numerous syndromes and deletions may cause this
