Digestive Diseases and Sciences

, Volume 64, Issue 10, pp 2750–2756 | Cite as

Chronic Megacolon Presenting in Adolescents or Adults: Clinical Manifestations, Diagnosis, and Genetic Associations

  • Xiao Jing Wang
  • Michael CamilleriEmail author



Chronic megacolon is rarely encountered in clinical practice beyond infancy or early childhood. Most cases are sporadic, and some are familial megacolon and present during adolescence or adulthood. There is a need for diagnostic criteria and identifying genetic variants reported in non-Hirschsprung’s megacolon.


PubMed search was conducted using specific key words.


This article reviews the clinical manifestations, current diagnostic criteria, and intraluminal measurements of colonic compliance to confirm the diagnosis when the radiological imaging is not conclusive. Normal ranges of colonic compliance at 20, 30, and 44 mmHg distension are provided. The diverse genetic associations with chronic acquired megacolon beyond childhood are reviewed, including the potential association of SEMA3F gene in a family with megacolon.


Measuring colonic compliance could be standardized and simplified by measuring volume at 20, 30, and 44 mmHg distension to identify megacolon when radiology is inconclusive. Diverse genetic associations with chronic acquired megacolon beyond childhood have been identified.


Congenital Hirschsprung Enteric nervous system Megacolon 



The authors thank Mrs. Cindy Stanislav for excellent secretarial assistance.


Dr. Camilleri is funded by grants RO1-DK115950 and R01-DK67071 from National Institutes of Health.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Clinical Enteric Neuroscience Translational and Epidemiological Research (CENTER), Division of Gastroenterology and HepatologyMayo ClinicRochesterUSA

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