Mitochondrial neurogastrointestinal encephalomyopathy - Diagnostic features of two patients


Soykan I., Cetinkaya H., Erdem S., Tan E., Aydin F., Bahar K., ...More

JOURNAL OF CLINICAL GASTROENTEROLOGY, vol.34, no.4, pp.446-448, 2002 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 4
  • Publication Date: 2002
  • Doi Number: 10.1097/00004836-200204000-00013
  • Title of Journal : JOURNAL OF CLINICAL GASTROENTEROLOGY
  • Page Numbers: pp.446-448

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy is a rare. multisystem disorder characterized by gastrointestinal dysmotility, ptosis' neurologic findings (e.g., peripheral neuropathy), leukoencephalopathy, and thin body habitus. Gastrointestinal motility studies and skeletal muscle biopsy are recommended diagnostic tools. We report two patients that highlight the diagnostic characteristics of this rare entity.