Abstract

Variants of Hirschsprung disease consist of a group of diseases clinically resembling Hirschsprung disease despite normal rectal biopsy results. These diseases composed of a small part of gastrointestinal neuromuscular pathologies. Gastrointestinal neuromuscular pathologies have been classified in “International London Classification” under the headings of Enteric Neuropathies, Enteric Myopathies and Enteric Mesenchymopathies. Among them Segmental aganglionosis, hypoganglionosis, hyperganglionosis, MMIHS and internal anal sphincter achalasia constitute variants of Hirschsprung disease.

The most important congenital intestinal motility disorder seen in children is Hirschsprung disease. Etiology, and pathogenesis of the disease have been examined extensively, and important conclusions have been obtained. It has been thought that agangliosis due to arrest in caudal migration of neural crest-derived cells along the hindgut is responsible for the development of the the disease. Recent data improved the understanding etiology and pathogenesis of the Hirschsprung disease.

Most patients with variants of Hirschsprung disease present functional intestinal obstruction findings and the diagnosis is establish on the basis of specific histochemical, immunohistochemical, and electron microscopic studies.

Treatment of some of these patients (those with hipoganglionosis) is similar to that of Hirschsprung Disease Whereas treatment of some of them is completely conservative. Posterior anal sphincter myectomy or intrasphincteric botulinum toxin injection has been recommended for the treatment of internal anal sphincter achalasia. The only remedy in MMIHS seems to be multivisceral transplantation.