Abstract
Objectives Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder caused by biallelic mutation in the thymidine phosphorylase (TYMP) gene. We present the case of a 27-year-old female with a five-year history of weight loss and abdominal pain, which was diagnosed as Crohn’s disease. The onset of progressive sensorimotor neuropathy and hearing impairment prompted further investigation leading to the diagnosis of MNGIE.
Case A 27-year-old Assyrian female with consanguineous parents was admitted to hospital with recurrent abdominal pain and weight loss over a five-year period. She had multiple similar admissions in the previous three years complicated by small bowel perforation from severe diverticulosis and total parenteral nutrition for intestinal failure. This was extensively investigated and she had received diagnoses including Crohn’s disease, small intestine bacterial overgrowth and superior mesenteric artery syndrome. She reported a two-year history of worsening hearing impairment and sensorimotor disturbance, leaving her predominantly bedbound. Examination revealed profound cachexia with body mass index 11kg/m2 and a severe sensorimotor neuropathy with profound sensory ataxia. Audiometry showed bilateral severe sensorineural hearing loss and MR brain imaging showed extensive leukoencephalopathy. Genetic testing detected a homozygous TYMP mutation, establishing a diagnosis of MNGIE. She was commenced on platelet infusions however made no significant clinical improvement. Her younger sister with similar, but less severe, symptoms was subsequently diagnosed with MNGIE and is currently on regular platelet infusions whilst awaiting an orthotopic liver transplant.
Conclusion This case highlights the diagnostic challenges in patients with MNGIE which often delays the initiation of appropriate treatment.
