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. , ...Daha Fazla

CLINICAL DYSMORPHOLOGY, cilt.28, ss.22-25, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 28 Konu: 1
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1097/mcd.0000000000000250
  • Dergi Adı: CLINICAL DYSMORPHOLOGY
  • Sayfa Sayıları: ss.22-25

Özet

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.