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Pediatric Surgery International

, Volume 26, Issue 11, pp 1111–1115 | Cite as

Isolated hypoganglionosis: systematic review of a rare intestinal innervation defect

  • Jens Dingemann
  • Prem Puri
Original Article

Abstract

Purpose

Isolated hypoganglionosis (IH) is rare and resembles Hirschsprung’s disease. The diagnosis by suction biopsy is difficult. A full-thickness biopsy is essential. Histological features of IH include sparse, small myenteric ganglia, low acetylcholinesterase activity in the lamina propria, and hypertrophy of muscularis mucosae and circular muscle. This review investigates the epidemiology, symptoms, diagnosis, and outcome of patients with IH.

Methods

A systematic review, using the keywords “isolated hypoganglionosis” and “intestinal hypoganglionosis” was performed. Publications were reviewed for epidemiology, histological methods, operative procedures, follow-up, and patient’s outcome.

Results

Eleven publications from 1978 to 2009 reported 92 patients with IH (69 males and 23 females, age 4.85 years), presenting with constipation or enterocolitis. Diagnosis of IH was made by full-thickness biopsy and AChE staining in 91% of patients with additional staining in 82%; 54 patients had bowel resection and pull-through procedures; 11 patients had ileostomy or colostomy, and 2 had sphincter myectomy. Complications reported were enterocolitis, constipation, and residual disease. Seven patients (8%) died due to enterocolitis or short-bowel complications.

Conclusion

This review confirms that diagnosis of IH is only possible by histochemical examination of a full-thickness biopsy. Despite advanced age at diagnosis of IH, epidemiological and clinical data are similar to aganglionosis.

Keywords

Isolated hypoganglionosis Intestinal hypoganglionosis Full-thickness biopsy Neuronal intestinal malformation Hirschsprung’s related disease 

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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  1. 1.National Children’s Research CentreOur Lady’s Children’s HospitalDublin-12Ireland
  2. 2.University College DublinDublinIreland

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