Hirschsprung’s disease

Hirschsprung’s disease is characterised by the congenital

absence of intramural ganglion cells (aganglionosis) and the
presence of hypertrophic nerves in the distal large bowel. The
absence of ganglion cells is due to a failure of migration of
vagal neural crest cells into the developing gut. The affected
gut is in spasm causing a functional bowel obstruction. The
aganglionosis is restricted to the rectum and sigmoid colon in
75 per cent of patients (short segment), involves the proximal
colon in 15 per cent (long segment) and affects the entire
colon and a portion of terminal ileum in 10 per cent (total
colonic aganglionosis). A transition zone exists between the
dilated, proximal, normally innervated bowel and the narrow,
distal aganglionic segment.
Hirschsprung’s disease may be familial or associated with
Down syndrome or other genetic disorders. Gene mutations

have been identified on chromosome 10 (involving the RET

proto-oncogene) and on chromosome 13 in some patients.
Hirschsprung’s disease typically presents in the neonatal period
with delayed passage of meconium, abdominal distension and
bilious vomiting, but it may not be diagnosed until later in
childhood or even adult life, when it manifests as severe chronic
constipation. Enterocolitis is a potentially fatal complication of
the disease.
The diagnosis requires an adequate rectal biopsy and an
experienced pathologist. A contrast enema may show the
narrow aganglionic segment, a cone and the dilated proximal
bowel (Figure 8.31). Surgery aims to remove the aganglionic
segment and ‘pull-through’ ganglionic bowel to the anus (e.g.
Swenson, Duhamel, Soave and transanal procedures) and can
be done in a single stage or in several stages after first establishing
a proximal stoma in normally innervated bowel. Most
patients achieve good bowel control, but a significant minority
experience residual constipation and/or faecal incontinence or
further enterocolitis.