Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation

Eur J Pediatr. 2010 Nov;169(11):1375-8. doi: 10.1007/s00431-010-1237-0. Epub 2010 Jun 29.

Abstract

Introduction: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder characterized by severe gastrointestinal dysmotility and leads to cachexia, ptosis, external ophthalmoplegia, peripheral neuropathy, and leukoencephalopathy.

Results and discussion: It is often misdiagnosed as anorexia nervosa or intestinal pseudoobstuctions and are unnecessarily treated with surgery. It has been established that MNGIE is caused by mutations in the gene encoding thymidine phosphorylase, which lead to absolute or nearly complete loss of its catalytic activity, producing systemic accumulations of its substrates, thymidine and deoxyuridine.

Conclusion: We present herein the clinical, neuroimaging, and molecular findings of a patient with MNGIE caused by a novel homozygous TYMP gene mutation (c.112G>T which convert codon 38 from glutamate to a stop codon [p.38E>X]).

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • DNA / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Intestinal Pseudo-Obstruction / diagnosis
  • Intestinal Pseudo-Obstruction / genetics
  • Intestinal Pseudo-Obstruction / metabolism
  • Magnetic Resonance Imaging
  • Mitochondrial Encephalomyopathies / diagnosis
  • Mitochondrial Encephalomyopathies / genetics
  • Mitochondrial Encephalomyopathies / metabolism
  • Muscular Dystrophy, Oculopharyngeal
  • Mutation*
  • Ophthalmoplegia / congenital
  • Thymidine Phosphorylase / genetics*
  • Thymidine Phosphorylase / metabolism

Substances

  • DNA
  • TYMP protein, human
  • Thymidine Phosphorylase

Supplementary concepts

  • Visceral myopathy familial external ophthalmoplegia