Classification and diagnostic criteria of variants of Hirschsprung's disease.

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.

journal_name

Pediatr Surg Int

authors

Friedmacher F,Puri P

doi

10.1007/s00383-013-3351-3

subject

Has Abstract

pub_date

2013-09-01 00:00:00

pages

855-72

issue

9

eissn

0179-0358

issn

1437-9813

journal_volume

29

pub_type

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