Mitochondrial neuro-gastrointestinal encephalomyopathy presenting with recurrent bowel perforations and intra-abdominal abscesses.

INTRODUCTION

Mitochondrial neuro-gastrointestinal encephalomyopathy syndrome (MNGIE syndrome) is a rare genetic disorder that is defined clinically by severe gastrointestinal dysmotility, cachexia, peripheral neuropathy, ptosis and/or ophthalmoparesis, and leukoencephalopathy.

CASE REPORT: We report a case of a 26-year-old man with MNGIE syndrome with a unique clinical picture consisting of recurrent episodes of spontaneous bowel perforation and multiple intra-abdominal abscesses. The patient was admitted to our hospital several times in the past few years and underwent urgent laparotomies due to perforations in the small bowel.

CONCLUSION

Case reports regarding bowel perforations in MNGIE syndrome are scarce and mostly relate to a single perforation and attributed to chronic pseudo-obstruction of the small bowel. To the best of our knowledge, there are no case reports regarding recurrent perforations and abscesses. Surgical management of these cases is challenging as there is no curative option for this genetic disorder. Primary care physicians and treating gastroenterologists should be aware of the potential surgical emergencies associated with this disorder.