Section 21. Disorders of the Gastrointestinal System >
Part 3. Congenital and Anatomic Disorders of the Stomach and Intestine >
Chapter 407. Motor Disorders of the Stomach, Small Bowel, and Colon
Hirschsprung DiseaseManu R. Sood and Casey M. Calkins
Topics Discussed: gastroenterology and hepatology; gastrointestinal motility disorder; hirschsprung's disease.
Sections: Other Colon Neuromuscular Disorders, Anal Achalasia, References.
Excerpt:"Hirschsprung disease is a neurocristopathy due to the aberrant
migration, proliferation, or differentiation of vagal neural crest
cells. The most common form of the disease (~ 80% of patients)
is called short-segment Hirschsprung disease, where aganglionosis
does not extend beyond the sigmoid colon. In the 20% of
the patients, the aganglionic region extends more proximally, sometimes
involving much of the small intestine.23Hirschsprung disease occurs in 1 in 5000 live births and is the
most common cause of lower intestinal obstruction in neonates. Hirschsprung
disease is a male-predominant disease, with male-to-female ratio
of 4:1 in children with rectosigmoid disease. The recurrence risk
for siblings of a child with short-segment Hirschsprung disease
is 4%.18 As the length of aganglionic segment increases,
the recurrence risk to siblings increases and is almost 20% with
total colonic aganglionosis.18 The male predominance decreases with
increasing length of bowel aganglionosis. Racial distribution is
equal for white and African American infants. Hirschsprung disease
is associated with a variety of genetic syndromes including Down
syndrome (up to 10% of patients with Down syndrome), multiple
endocrine neoplasia type 2A, Shah-Waardenburg syndrome, Santos syndrome,
and Haddad syndrome (eTable 407.1)...."
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