Isolated hypoganglionosis: systematic review of a rare intestinal innervation defect
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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.
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.
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.
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.
KeywordsIsolated hypoganglionosis Intestinal hypoganglionosis Full-thickness biopsy Neuronal intestinal malformation Hirschsprung’s related disease
- 1.Borchard F, Meier-Ruge W, Wiebecke B, Briner J, Müntefering H, Födisch HF, Holschneider AM, Schmidt A, Enck P, Stolte M (1991) Disorders of the innervation of the large intestine-classification, diagnosis. Results of a consensus conference of the Society of Gastroenteropathology 1 December 1990 in Frankfurt/Main. Pathologe 12:171–174PubMedGoogle Scholar
- 2.Schärli AF (1995) Standardization of terminology of intestinal innervation disorders. Pediatr Surg Int 10:440Google Scholar
- 4.Meier-Ruge W, Bruder E (2008) Histopathological diagnosis and differential diagnosis of Hirschsprung’s disease. In: Holschneider AM, Puri P (eds) Hirschsprung’s disease, allied disorders, 3rd edn. Springer, Berlin, pp 185–197Google Scholar
- 9.Puri P, Montedonico S (2008) Hirschsprung’s disease: clinical features. In: Holschneider AM, Puri P (eds) Hirschsprung’s disease and allied disorders, 3rd edn. Springer, Berlin, pp 185–197Google Scholar
- 23.Holschneider AM, Puri P, Homrighausen LH, Meier-Ruge W (2008) Intestinal neuronal malformations (IND): clinical experience and treatment. In: Holschneider AM, Puri P (eds) Hirschsprung’s disease, allied disorders, 3rd edn. Springer, Berlin, pp 229–251Google Scholar