Rare Digestive Disease: Mitochondrial neurogastrointestinal encephalomyopathy, review of literature

Abstract Background Clinical features of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) vary considerably among patients, and delayed diagnoses or misdiagnoses are common. Aim We analyzed the clinical features of patients with MNGIE to understand the disorder better. Methods We summarized one case from our hospital and case series from literature between January 1, 2000, and September 30, 2020. Results Sixty-two patients were included in this study, with 22 (35.5%) female and 38 (61.3%) male. The median age at diagnosis was 25 (19.5, 30.5) years. The most common gastrointestinal (GI) symptoms were weight loss/cachexia (47, 75.8%), diarrhea (42, 67.7%), and abdominal pain (40, 64.5%). The most common neurological symptoms were leukoencephalopathy (51, 82.3%), ocular signs such as ptosis or ophthalmoparesis (44, 71%), and polyneuropathy (43, 69.4%). 22 (33.9%) patients were born to consanguineous parents. The percentage of GI symptoms including abdominal pain, vomiting, and diarrhea was significantly higher in the younger group (less than 40 years old) compared to that in the elder group (over 40 years old). Conclusions MNGIE should be considered in young patients with GI dysmotility, particularly those with a family history or those born to consanguineous patients.