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Friedmacher, F; Puri, P.
Classification and diagnostic criteria of variants of Hirschsprung's disease.
Pediatr Surg Int. 2013; 29(9): 855-872. Doi: 10.1007/s00383-013-3351-3
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Leading authors Med Uni Graz: Friedmacher Florian
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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.
Find related publications in this database (using NLM MeSH Indexing): Abnormalities, Multiple - diagnosis Abnormalities, Multiple - therapy; Colon - abnormalities; Digestive System Abnormalities - classification Digestive System Abnormalities - diagnosis Digestive System Abnormalities - therapy; Hirschsprung Disease - classification Hirschsprung Disease - diagnosis Hirschsprung Disease - therapy; Humans -; Infant -; Infant, Newborn -; Intestinal Pseudo-Obstruction - diagnosis Intestinal Pseudo-Obstruction - therapy; Syndrome -; Urinary Bladder - abnormalities
Find related publications in this database (Keywords): Hirschsprung's disease; Intestinal neuronal dysplasia; Ganglioneuromatosis; Hypoganglionosis; Immature ganglia; Internal anal sphincter achalasia; Megacystis microcolon intestinal hypoperistalsis syndrome