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contrast enema radiographs of the
colon may be useful in establishing the
diagnosis, full-thickness rectal biopsy
remains the standard requirement for a
While most patients present in infancy
and early childhood, some may not
have significant symptoms until later in
life.1,5,8--13 Common symptoms in older
children include chronic progressive
constipation, recurrent faecal impaction,
failure to thrive, and malnutrition.
Hirschsprung's disease that is first
diagnosed in adulthood, as in the case
of Mrs S, is symptomatic from early
childhood in most cases.1,8 However,
the condition is frequently masked
when constipation has been managed
relatively effectively with laxatives.
The true incidence of adult
Hirschsprung's disease is unknown,
mainly because the condition is
frequently overlooked in the adult
population.1,11 The diagnosis is usually
much more difficult in adults than in
infants, partly because of the rarity of
the disease and the higher incidence
of short or ultra-short segment
aganglionosis in adults.1 Symptoms
will generally consist of long-standing
refractory constipation with varying
degrees of abdominal distention,
tenderness and pain.1 One third of the
patients will experience progressive
symptoms or complications, requiring
urgent surgical intervention.8
Occasionally, Hirschsprung's disease
presents with the development of
functional obstruction, faecal impaction
and megacolon in later life.8
On confirmation of diagnosis of
Hirschsprung's disease, surgery usually
is indicated. This involves removal of the
section of the bowel devoid of ganglion
cells and the creation of an anastomosis
to the distal rectum with the healthy
innervated part of the colon. If the
child has Hirschsprung's-associated
enterocolitis or a significantly dilated
colon, a temporary colostomy can be
placed for several months while the
child recovers. The definitive surgery is
typically performed four to six months
after the colostomy placement.5
Laparoscopic techniques have been
in use for over a decade.14,15 Surgery in
older patients, like Mrs S and her sister,
have higher risks of complications.
Ongoing research is examining the
possibility of stem cell transplantation
into the aganglionic gut and the
reactivation of dormant stem cells
in the gut to regenerate the enteric
Although significantly reduced during
recent decades, the mortality rate for
Hirschsprung's disease in newborns
and infants still ranges between 1%
and 10%, and is highest in those with
associated cardiovascular or other
malformations.7 Despite apparently
successful surgery, the long-term
outcomes can be unsatisfactory
with some children facing a lifetime
of continence issues or debilitating
constipation.2,6 Up to 10% may have
ongoing constipation, and less than 1%
may have faecal incontinence.4 However,
with proper treatment, most patients
will not have long-term adverse effects
and can live normally.5
Enterocolitis and colonic rupture are the
most serious complications associated
with the disease and are the most
common causes of Hirschsprung's-
related mortality.5 Up to one-third
of patients develop Hirschsprung's-
associated enterocolitis. Patients
should be monitored closely for the
development of this complication
for years after surgical treatment of
Hirschsprung's disease. The early
symptoms of enterocolitis include
abdominal distention, foul-smelling,
watery diarrhoea and lethargy.
Treatment with colonic irrigations
several times per day and antibiotics
(e.g. metronidazole) is usually effective.5
After diagnosis of Hirschsprung's
disease and corrective surgery, it is
recommended that the patient's family
is educated about the importance of a
high-fibre diet because constipation and
bowel stasis are thought to increase the
risk of enterocolitis.5
1. Miyamoto M, Egami K, Maeda S, et al. Hirschsprung's
disease in adults: report of a case and review of the
literature. J Nippon Med Sch 2005;72:113--20.
2. Theocharatos S, Kenny SE. Hirschsprung's disease: current
management and prospects for transplantation of
enteric nervous system progenitor cells. Early Hum Dev
3. Borrego S, Ruiz-Ferrer M, Fernandez RM, Antinolo G.
Hirschsprung's disease as a model of complex genetic
etiology. Histol Histopathol 2013;28:1117--36.
4. Butler Tjaden NE, Trainor PA. The developmental etiology
and pathogenesis of Hirschsprung disease. Transl Res
5. Kessmann J. Hirschsprung's disease: diagnosis and
management. Am Fam Physician 2006;74:1319--22.
6. Kenny SE, Tam PK, Garcia-Barcelo M. Hirschsprung's
disease. Semin Pediatr Surg 2010;19:194--200.
7. Pini Prato A, Rossi V, Avanzini S, Mattioli G, Disma N, Jasonni
V. Hirschsprung's disease: what about mortality? Pediatr
Surg Int 2011;27:473--8.
8. Vorobyov GI, Achkasov SI, Biryukov OM. Clinical features'
diagnostics and treatment of Hirschsprung's disease in
adults. Colorectal Dis 2010;12:1242--8.
9. Tsimmerman Ia S. Hirschsprung's disease in adults. Klin
Med (Mosk) 2011;89:60--3.
10. Tsimmerman Ia S, Tsimmerma I, Solov'eva IV.
Hirschsprung's disease in adults: state of the problem and
description of a rare clinical case. Eksp Klin Gastroenterol
11. Qiu JF, Shi YJ, Hu L, Fang L, Wang HF, Zhang MC. Adult
Hirschsprung's disease: report of four cases. Int J Clin Exp
12. Tomita R, Ikeda T, Fujisaki S, Tanjoh K, Munakata K.
Hirschsprung's disease and its allied disorders in adults'
histological and clinical studies. Hepatogastroenterology
13. Chen F, Winston JH, 3rd, Jain SK, Frankel WL. Hirschsprung's
disease in a young adult: report of a case and review of the
literature. Ann Diagn Pathol 2006;10:347--51.
14. Georgeson KE, Robertson DJ. Laparoscopic-assisted
approaches for the definitive surgery for Hirschsprung's
disease. Semin Pediatr Surg 2004;13:256--62.
15. Georgeson KE. Laparoscopic-assisted pull-through for
Hirschsprung's disease. Semin Pediatr Surg 2002;11:205--10.
16. Hagl CI, Heumuller S, Klotz M, Subotic U, Wessel L, Schafer
KH. Smooth muscle proteins from Hirschsprung's disease
facilitates stem cell differentiation. Pediatr Surg Int
17. Zhang D, Brinas IM, Binder BJ, Landman KA, Newgreen DF.
Neural crest regionalisation for enteric nervous system
formation: implications for Hirschsprung's disease and
stem cell therapy. Dev Biol 2010;339:280--94.
18. Heanue TA, Pachnis V. Enteric nervous system
development and Hirschsprung's disease: advances
in genetic and stem cell studies. Nat Rev Neurosci
'HIRSCHSPRUNG'S DISEASE IN THE ADULT IS A RARE AND FREQUENTLY
MISDIAGNOSED CAUSE OF LONGSTANDING REFRACTORY
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