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

Clin Dysmorphol. 2019 Jan;28(1):22-25. doi: 10.1097/MCD.0000000000000250.


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.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Female
  • Humans
  • Intestinal Pseudo-Obstruction / complications*
  • Intestinal Pseudo-Obstruction / diagnostic imaging
  • Intestinal Pseudo-Obstruction / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mitochondrial Encephalomyopathies / complications*
  • Mitochondrial Encephalomyopathies / diagnostic imaging
  • Mitochondrial Encephalomyopathies / genetics*
  • Muscular Dystrophy, Oculopharyngeal
  • Mutation / genetics*
  • Ophthalmoplegia / congenital
  • Pedigree
  • RNA Splice Sites / genetics*
  • Tomography, X-Ray Computed
  • Young Adult


  • RNA Splice Sites

Supplementary concepts

  • Visceral myopathy familial external ophthalmoplegia