Chronic Megacolon Clinical Presentation

  • Author: David M Manuel, MD; Chief Editor: Julian Katz, MD   more...
 
Updated: Feb 28, 2010
 

History

Historically, chronic megacolon has been categorized into 2 groups, according to when symptoms begin. The congenital group experiences onset of constipation before age 1 year. The acquired group develops symptoms after age 10 years until adulthood.

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Physical

Physical examination generally reveals a distended abdomen, which may or may not be tense. Tympany is invariably present.

Digital rectal examination may demonstrate a hard mass of stool just above the anorectal ring. Digital rectal examination in a patient with Hirschsprung disease may bring about a large gush of retained fecal material.

Megarectum with a rectum distended with stool, if chronic, tends to cause the anus to gape open secondary to the dysfunction of the internal sphincter mechanism. These patients may present with factitious diarrhea secondary to overflow incontinence.

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Causes

Causes of acquired megacolon

Neurologic diseases include the following:

  • Chagas disease
  • Parkinson disease
  • Myotonic dystrophy
  • Diabetic neuropathy
  • Spinal cord injury
  • Paraneoplastic neuropathy
  • Amyloidosis

Systemic diseases include the following:

  • Scleroderma
  • Dermatomyositis/polymyositis
  • Systemic lupus erythematosus
  • Mixed connective tissue disease

Metabolic diseases include the following:

  • Hypothyroidism
  • Hypokalemia
  • Porphyria
  • Pheochromocytoma

Medication-induced conditions can cause acquired megacolon.

Idiopathic include the following:

  • Nonfamilial visceral neuropathy (sporadic hollow visceral neuropathy or chronic idiopathic intestinal pseudo-obstruction)
  • Results from damage to the myenteric plexus from drugs or viral infections

The most common nonmechanical cause of acquired megacolon is infection with T cruzi (Chagas disease).[2] This infection results in the destruction of the enteric nervous system.[5, 6, 7] Although this disease was originally confined to South America, recent estimates indicate that 350,000 people in the United States are seropositive, one third of whom are thought to have chronic Chagas disease.

Causes of congenital megacolon

Enteric neuropathies include the following:

  • Hirschsprung disease (congenital aganglionosis)[2, 8] : It is caused by a single gene mutation of the RET proto-oncogene on band 10q11.2. The defect occurs in 1 in 5000 live births. Some cases are familial, with an overall incidence of 3.6% among siblings of index cases.
  • Waardenburg-Shah syndrome (piebaldism, neural deafness, megacolon)
  • Multiple endocrine neoplasia type 2A (MEN 2A) or 2B (MEN 2B)

Visceral myopathies include the following:

  • Mitochondrial neurogastrointestinal encephalopathy (MNGIE) - Only type III involves marked dilatation of the colon
  • Oculogastrointestinal neuropathy (OGIN)
  • Idiopathic

In the newborn period, an unrecognized imperforate anus may be the cause of megacolon.

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Contributor Information and Disclosures
Author

David M Manuel, MD  Fellow, Department of Internal Medicine, Section of Gastroenterology, Providence Hospital and Medical Center

David M Manuel, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Medical Association, American Society of Gastrointestinal Endoscopy, and Crohns and Colitis Foundation of America

Disclosure: Nothing to disclose.

Coauthor(s)

Michael H Piper, MD, FACG, FACP  Clinical Assistant Professor, Department of Internal Medicine, Division of Gastroenterology, Wayne State University School of Medicine; Consulting Staff, Digestive Health Associates PLC

Michael H Piper, MD, FACG, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Gastroenterology, American College of Physicians, and Michigan State Medical Society

Disclosure: Nothing to disclose.

Roberto M Gamarra, MD  Consulting Gastroenterologist, Digestive Health Associates, PLC

Roberto M Gamarra, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Medical Association, American Society for Gastrointestinal Endoscopy, and Crohns and Colitis Foundation of America

Disclosure: Nothing to disclose.

Clifford Y Ko, MD  MS, Professor, Department of Surgery, University of California at Los Angeles School of Medicine

Clifford Y Ko, MD is a member of the following medical societies: American College of Surgeons, American Medical Association, American Society of Colon and Rectal Surgeons, Association for Academic Surgery, California Medical Association, and New York Academy of Sciences

Disclosure: Nothing to disclose.

Specialty Editor Board

Terence David Lewis, MBBS, FRACP, FRCPC, FACP  Program Director, Internal Medicine Residency, & Assistant Chairman, Associate Professor, Department of Internal Medicine, Division of Gastroenterology, Loma Linda University Medical Center

Terence David Lewis, MBBS, FRACP, FRCPC, FACP is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Medical Association, California Medical Association, Royal College of Physicians and Surgeons of Canada, and Sigma Xi

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Douglas M Heuman, MD, FACP, FACG, AGAF  Chief of GI, Hepatology, and Nutrition at North Shore University Hospital/Long Island Jewish Medical Center; Professor, Department of Medicine, Hofstra North Shore-LIJ School of Medicine

Douglas M Heuman, MD, FACP, FACG, AGAF is a member of the following medical societies: American Association for the Study of Liver Diseases, American College of Physicians, and American Gastroenterological Association

Disclosure: Novartis Grant/research funds Other; Bayer Grant/research funds Other; Otsuka Grant/research funds None; Bristol Myers Squibb Grant/research funds Other; Scynexis None None; Salix Grant/research funds Other; MannKind Other

Alex J Mechaber, MD, FACP  Senior Associate Dean for Undergraduate Medical Education, Associate Professor of Medicine, University of Miami Miller School of Medicine

Alex J Mechaber, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, and Society of General Internal Medicine

Disclosure: Nothing to disclose.

Chief Editor

Julian Katz, MD  Clinical Professor of Medicine, Drexel University College of Medicine

Julian Katz, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Geriatrics Society, American Medical Association, American Society for Gastrointestinal Endoscopy, American Society of Law, Medicine & Ethics, American Trauma Society, Association of American Medical Colleges, and Physicians for Social Responsibility

Disclosure: Nothing to disclose.

References

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