Hirschsprung disease


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con·gen·i·tal meg·a·co·lon

, megacolon congenitum
congenital dilation and hypertrophy of the colon due to absence (aganglionosis) or marked reduction (hypoganglionosis) in the number of ganglion cells of the myenteric plexus of the rectum and a varying but continuous length of gut above the rectum; seen in humans and dogs.

Hirschsprung disease

A condition of infant onset characterised by the absence of myenteric nerves in the distal colon, extending proximally from the anus for a variable distance. It affects an estimated 1:5000 live births, and is more common in males (male:female ratio, 4:1); up to 10% have Down syndrome. 

Clinical findings
Failure to pass meconium or stool in first 24 hours post-partum; abdominal distention; vomiting; constipation at birth. Peristalsis is absent in aganglionic segment, causing proximal pseudo-obstruction and gross dilatation, enterocolitis and perforation. In older children, Hirschsprung disease is characterised by chronic constipation, abdominal distention and stunted growth.

Diagnosis
By rectal suction biopsy; must include submucosa, taken at least 2 cm above pectinate line.

Management
Resection of aganglionic segment, guided by intraoperative frozen sections from myenteric plexus.

con·gen·i·tal meg·a·co·lon

, megacolon congenitum (kŏn-jen'i-tăl meg'ă-kō-lŏn, kon-jen'i-tŭm)
Congenital dilation and hypertrophy of the colon due to absence (aganglionosis) or marked reduction (hypoganglionosis) in the number of ganglion cells of the myenteric plexus of the rectum and a varying but continuous length of colon above the rectum.
Synonym(s): Hirschsprung disease.

Hirschsprung disease

Hirschsprung disease is a congenital abnormality (birth defect) of the bowel in which there is absence of the ganglia (nerves) in the wall of the bowel. Nerves are missing starting at the anus and extending a variable distance up the bowel. This results in megacolon (massive enlargement of the bowel) above the point where the nerves are missing. (The nerves are needed to assist in the natural movement of the muscles in the lining of the bowels that move bowel contents through.)
Mentioned in: Ostomy

Hirschsprung,

Harald, Danish physician, 1830-1916.
Hirschsprung disease - congenital dilation and hypertrophy of the colon. Synonym(s): congenital megacolon
References in periodicals archive ?
Probiotic prophylaxis after pullthrough for Hirschsprung disease to reduce incidence of enterocolitis: A prospective, randomized, double-blind, placebo-controlled, multicenter trial.
Hirschsprung disease is a relatively common cause of intestinal obstruction in the new-born.
Hirschsprung disease is linked to defects in neural crest stem cell function.
Calretinin immunohistochemistry versus acetylcholinesterase histochemistry in the evaluation of suction rectal biopsies for Hirschsprung disease.
Diagnosis of Hirschsprung disease using the rectal biopsy: multi-institutional survey.
5) Hirschsprung disease usually presents in the first few months of life with history of delay in the passage of meconium in the neonatal period and constipation.
Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease.
American Pseudo-Obstruction and Hirschsprung Disease Society, Inc.
Special facies or facial asymmetry, skin manifestations, fundus pigmentry abnormalities, facial palsy, musculoskeletal abnormalities (aplasia of the first two ribs, lack of differentiation of the small carpal bones, cystic formation of the sacrum, abnormalities of arms like amyoplasia and stiffness of the joints, and cutaneous syndactyly), microcephaly, mental retardation and hirschsprung disease have also been revealed in the literature.
Hirschsprung disease (HSCR) [4] is a developmental disorder characterized by the absence of ganglion cells in the nerve plexuses of the lower digestive tract.
7,8] The absence or reduction of c-Kit-immunoreactive cells has been observed in a number of intestinal motility disorders, such as infantile hypertrophic pyloric stenosis, Hirschsprung disease, chronic intestinal pseudo-obstruction, and slow-transit constipation.