Spontaneous abdominal esophageal perforation in a patient with mitochondrial neurogastrointestinal encephalomyopathy

Kalkan I. H., Koksal A. S., Evcimen S., Sapmaz F., Oztas E., ÖNDER F. O., ...More

ACTA CLINICA BELGICA, vol.70, no.1, pp.44-45, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 70 Issue: 1
  • Publication Date: 2015
  • Doi Number: 10.1179/2295333714y.0000000053
  • Journal Name: ACTA CLINICA BELGICA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.44-45
  • Eskisehir Osmangazi University Affiliated: Yes

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive multisystem disorder caused by thymidine phosphorylase deficiency. Severe denutrition is almost constant during the course of the disease which leads to severe malnutrition and requires long-term parenteral nutrition in most cases. Patients with MNGIE syndrome and chronic intestinal pseudo-obstruction have a particularly poor prognosis and they usually die around 40 years of age. Gastrointestinal perforation associated with MNGIE is extremely rare. Herein we present our unique case with MNGIE associated abdominal esophageal perforation.