Mitochondrial neurogastrointestinal encephalomyopathy: Case report

Colak Y., Tuncer I., Caglar E., Barutcu D., Ulasoglu C., Kiziltas S.

TURKISH JOURNAL OF GASTROENTEROLOGY, vol.21, no.3, pp.305-307, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 3
  • Publication Date: 2010
  • Doi Number: 10.4318/tjg.2010.0106
  • Journal Name: TURKISH JOURNAL OF GASTROENTEROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.305-307
  • Keywords: Mitochondrial neurogastrointestinal encephalomyopathy, intestinal pseudoobstruction, deafness, diabetes mellitus, hypothyroidism, MNGIE, MUTATION
  • Marmara University Affiliated: No

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive multisystem disorder caused by thymidine phosphorylase deficiency. The disease is characterized clinically by ptosis, progressive external ophthalmoparesis, severe gastrointestinal dysmotility, peripheral neuropathy, leukoencephalopathy, and mitochondrial abnormalities. Herein, we describe a patient with mitochondrial neurogastrointestinal encephalomyopathy who presented intestinal pseudoobstruction.