Mitochondrial neurogastrointestinal encephalomyopathy


Coşkun E., Ulusal G., Bulut N., Bektaş H., Öztekin M. F., YILDIRIM İ. S.

Turkish Journal of Gastroenterology, vol.16, no.3, pp.163-166, 2005 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 3
  • Publication Date: 2005
  • Journal Name: Turkish Journal of Gastroenterology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.163-166
  • Keywords: Intestinal pseudoobstruction, Mitochondrial neurogastrointestinal encephalomyopathy
  • Lokman Hekim University Affiliated: No

Abstract

Mitochondrial, neurogastrointestinal encephalomyopathy is an autosomal recessive disease characterized by progressive ophthalmoplegia, peripheral neuropathy, mitochondrial abnormalities and gastrointestinal involvement. We describe a 19-year-old male having chronic intestinal pseudoobstruction associated with ophthalmoplegia and proximal muscle weakness. The clinical and radiologic features suggested the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. Mitochondrial genetic defects should be considered in the differential diagnosis of unexplained chronic gastrointestinal symptoms accompanied by neurological findings, especially in families where there is more than one individual with the same kind of symptoms.