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Pediatric Surgery International
Published in: Pediatric Surgery International 9/2013

01-09-2013 | Review Article

Classification and diagnostic criteria of variants of Hirschsprung’s disease

Authors: Florian Friedmacher, Prem Puri

Published in: Pediatric Surgery International | Issue 9/2013

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Abstract

“Variants of Hirschsprung’s disease” are conditions that clinically resemble Hirschsprung’s disease (HD), despite the presence of ganglion cells in rectal suction biopsies. The diagnosis and management of these patients can be challenging. Specific histological, immunohistochemical and electron microscopic investigations are required to characterize this heterogeneous group of functional bowel disorders. Variants of HD include intestinal neuronal dysplasia, intestinal ganglioneuromatosis, isolated hypoganglionosis, immature ganglia, absence of the argyrophil plexus, internal anal sphincter achalasia and congenital smooth muscle cell disorders such as megacystis microcolon intestinal hypoperistalsis syndrome. This review article systematically classifies variants of HD based on current diagnostic criteria with an additional focus on pathogenesis, epidemiology, clinical presentation, management and outcome.
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Metadata
Title
Classification and diagnostic criteria of variants of Hirschsprung’s disease
Authors
Florian Friedmacher
Prem Puri
Publication date
01-09-2013
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Surgery International / Issue 9/2013
Print ISSN: 0179-0358
Electronic ISSN: 1437-9813
DOI
https://doi.org/10.1007/s00383-013-3351-3

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