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Myopathy of internal anal sphincter with polyglucosan inclusions

J E Martin1, M Swash, M A Kamm

  • 1Department of Histopathology, London Hospital, U.K.

The Journal of Pathology
|July 1, 1990
PubMed

Insights

A hereditary syndrome linked to proctalgia fugax and constipation revealed a myopathy in the internal anal sphincter. Histological analysis identified polyglucosan inclusion bodies within smooth muscle fibers, suggesting a novel diagnostic marker for functional bowel disorders.

Area of Science:

  • Gastroenterology
  • Neuromuscular Pathology
  • Genetics

Background:

  • Proctalgia fugax and constipation can be debilitating functional bowel disorders.
  • Hereditary factors may play a role in certain gastrointestinal motility disorders.
  • Internal anal sphincter abnormalities can contribute to bowel dysfunction.

Purpose of the Study:

  • To investigate the underlying pathology of a hereditary syndrome presenting with proctalgia fugax and constipation.
  • To examine the histological features of the internal anal sphincter in affected individuals.
  • To identify potential molecular or structural causes for the observed smooth muscle dysfunction.

Main Methods:

  • Histological examination of internal anal sphincter biopsies.
  • Light microscopy and histochemical staining techniques.
  • Analysis of smooth muscle fiber structure and inclusion bodies.

Main Results:

  • Affected individuals exhibited a hypertrophied internal anal sphincter.
  • Smooth muscle fibers contained numerous vacuoles with ovoid inclusion bodies.
  • Inclusion bodies demonstrated characteristics consistent with polyglucosan composition.
  • These findings suggest a myopathy of the internal anal sphincter.

Conclusions:

  • Histological examination of the internal anal sphincter can reveal smooth muscle abnormalities in functional bowel disorders.
  • Polyglucosan accumulation in the internal anal sphincter may be associated with hereditary syndromes causing proctalgia fugax and constipation.
  • This study highlights a potential link between specific myopathies and functional bowel symptoms.

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