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Updated: May 18, 2026
05:45
Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Variants of Hirschsprung disease
Prem Puri1, Jan-Hendrik Gosemann
1National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland. prem.puri@ucd.ie
Seminars in Pediatric Surgery
|September 19, 2012
Summary
This review differentiates variants of Hirschsprung disease (HD), including intestinal neuronal dysplasia and internal anal sphincter achalasia, based on biopsy findings and clinical presentation. Understanding these distinctions is crucial for appropriate treatment of functional intestinal obstruction.
Area of Science:
- Gastroenterology
- Pediatric Surgery
- Histopathology
Background:
- Variants of Hirschsprung disease (HD) present clinically similar to HD but have ganglion cells in rectal biopsies.
- Accurate diagnosis relies on histologic, immunohistochemical, and electron microscopy of intestinal biopsies.
- These conditions cause functional intestinal obstruction in newborns and infants.
Purpose of the Study:
- To review and differentiate various entities that clinically resemble Hirschsprung disease.
- To summarize current knowledge on the diagnosis and treatment of variant HD entities.
- To highlight the importance of histopathology in distinguishing these conditions.
Main Methods:
- Review of literature on functional intestinal obstruction and variant Hirschsprung disease.
- Analysis of diagnostic criteria including rectal suction biopsies, histology, immunohistochemistry, and manometry.
- Summarization of treatment strategies for each condition.
Main Results:
- Intestinal neuronal dysplasia: characterized by hyperganglionosis, giant ganglia; treated conservatively or with myectomy.
- Isolated hypoganglionosis: decreased nerve cells, plexus area; treated with resection.
- Internal anal sphincter achalasia: abnormal manometry, normal biopsy; treated with myectomy or botulinum toxin.
- Megacystis microcolon intestinal hypoperistalsis: severe neonatal obstruction; requires TPN or transplant.
Conclusions:
- Distinguishing variant HD entities is essential for effective management of functional intestinal obstruction.
- Histologic and manometric findings are key to accurate diagnosis.
- Treatment varies significantly based on the specific variant, ranging from conservative measures to surgery or transplantation.
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