Rare Diseases Symptoms Automatic Extraction

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

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

"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.

Diseases presenting "rectal suction biopsies" symptom

  • hirschsprung disease
  • megacystis-microcolon-intestinal hypoperistalsis syndrome

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