Chronic intestinal pseudo-obstruction and neurological manifestations in early adulthood: considering MNGIE syndrome in differential diagnosis

J Gastrointestin Liver Dis. 2010 Jun;19(2):195-7.


The mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare and life-threatening, autosomal recessive, multisystem disorder, caused by the mutations in the thymidine phosphorylase gene. Herein, we report a case of a 21 year-old male with a long history of intestinal pseudo-obstruction who was diagnosed with MNGIE syndrome after an extensive examination. In this case, our objective was to bring the gastroenterologist's attention to this difficult to diagnose syndrome in the coexistence of intestinal pseudo-obstruction and neurologic manifestations. The patient was a member of a consanguineous family of six children, in whom two sisters had died due to this disorder and one sister was affected and is still alive. The patient presented with cachexia, abdominal pain, diarrhea and muscle weakness, and was previously considered to have gluten sensitive enteropathy and treated with dietary solutions.

Publication types

  • Case Reports

MeSH terms

  • Abdominal Pain / genetics
  • Barium Sulfate
  • Cachexia / genetics
  • Cerebrum / pathology
  • Chronic Disease
  • Contrast Media
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Diarrhea / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Intestinal Pseudo-Obstruction / enzymology
  • Intestinal Pseudo-Obstruction / genetics*
  • Intestinal Pseudo-Obstruction / therapy
  • Magnetic Resonance Imaging
  • Male
  • Mitochondrial Encephalomyopathies / diagnosis*
  • Mitochondrial Encephalomyopathies / enzymology
  • Mitochondrial Encephalomyopathies / genetics
  • Mitochondrial Encephalomyopathies / therapy
  • Mutation
  • Nervous System Diseases / enzymology
  • Nervous System Diseases / genetics*
  • Nervous System Diseases / pathology
  • Nervous System Diseases / physiopathology
  • Nervous System Diseases / therapy
  • Pedigree
  • Thymidine Phosphorylase / genetics
  • Weight Loss / genetics
  • Young Adult


  • Contrast Media
  • Barium Sulfate
  • TYMP protein, human
  • Thymidine Phosphorylase