MORNING REPORT

Chrissy Raman
1/28/11
HIRSCHSPRUNG DISEASE
• AKA congenital aganglionic megacolon
• Failure of neural crest cells to migrate
correctly
o Section that fails to relax to allow stool passage
• Mostly short-segment, at transition zone
o 5% have full colon involvement, even fewer with whole gut
• 1 in 5000 births; male: female ratio 3-4:1
o In full colon involvement, ratio 1:1
• Associated with CHD and T21 in 5-10% 
SIGNS AND SYMPTOMS
• 95% of kids with HD fail to pass mec in first 48
hours (1% of normal kids do this)
o If no mec in 72 hours, need eval for sure.
• If you do a rectal and get hit, consider HD
o That said, the surgeons don’t like us to do this
before biopsy.
• In older kids, chronic constipation, FTT
• Some present with enterocolitis -> toxic
megacolon
DIAGNOSIS
• Gold standard is suction rectal biopsy
o No ganglion cells (assuming sample is adequate)
o More sensitive and specific than other testing in
kids < 3 y/o.
• KUB may show signs of obstruction
• Contrast enema may show narrowing at
transition zone
o Often not visible in newborns
o Not too sensitive, but can be used to determine
extent of involvement if diagnosis already made
TREATMENT
• Surgery.
o Increasingly done in one step; used to go via
colostomy
• Most common longterm complications:
enterocolitis, constipation and fecal
incontinence
o Incontinence may be due to obstruction, functional,
increased sphincter tone, ongoing aganglionosis
• Bowel regimen
HD EMERGENCIES
• Hirschsprung-Associated Enterocolitis
o Fever, vomiting, explosiveness, distention, pain
 Can lead to perf, peritonitis, sepsis, death.
o Pathogenesis unclear, but suspect bacterial
overgrowth
o Can be pre- or post-op
o Treatment is antibiotics, IVF, rectal irrigation,
sometimes surgery (when stable)
• Volvulus (usually of sigmoid colon)
o Fever, vomiting, distention, pain
o More common in undiagnosed HD
References

Johnson, Terri L. Marty, Michael E. Matlak, Margo Hendrickson,

Richard E. Black and Dale G. "Unexpected Death From
Enterocolitis After Surgery for Hirschsprung's Disease."
Pediatrics 1995;96;118-121.

Peter J. Milla. "Hirschsprung Disease" Rudolph's Pediatrics,

21st Ed.  McGraw-Hill, 2003. pp1461-1463
Up To Date: "Congenital Aganglionic Megacolon (Hirschsprung
Disease"
http://www.uptodate.com/online/content/topic.do?topicKey=pedi
gast/7877&selectedTitle=1%7E52&source=search_result
. Accessed 1/24/11.