A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation


Erdogan M. A. , SEÇKİN Y., HARPUTLUOĞLU M. M. M. , KARINCAOĞLU M., ALADAĞ M., ÇALIŞKAN A. R. , ...More

CLINICAL DYSMORPHOLOGY, vol.28, no.1, pp.22-25, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 1
  • Publication Date: 2019
  • Doi Number: 10.1097/mcd.0000000000000250
  • Journal Name: CLINICAL DYSMORPHOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.22-25
  • Keywords: autosomal recessive disorder, chronic intestinal pseudo-obstruction, mitochondrial neurogastrointestinal encephalomyopathy, thymidine phosphorylase, DIAGNOSIS, MNGIE
  • Inonu University Affiliated: Yes

Abstract

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5-10 years after the onset of symptoms. MNGIE is caused by mutations in thymidine phosphorylase gene TYMP. Here, we present a 19-year-old boy with MNGIE who had a chronic intestinal pseudo-obstruction, and we describe his family history. Genetic analysis revealed a novel homozygous c.765+1G>C intronic mutation which is expected to disrupt splicing of TYMP in the patient. Family screening revealed that the brother was also affected and the mother was a carrier. MNGIE should be considered and genetic testing instigated if individuals with cachexia have neuromuscular complaints or symptoms of chronic intestinal pseudo-obstruction. Copyright (c) 2018 Wolters Kluwer Health, Inc. All rights reserved.