Diagnosis and management of MNGIE syndrome in children: case report and review of the literature.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare disorder that presents in childhood; however, marked delay in diagnosis is common. We report a case and review the literature describing the typical features that should alert pediatricians to the diagnosis. We also describe a novel management strategy for providing symptomatic relief.
D000293:Adolescent; D002648:Child; D004386:Duodenum / Q000000981:diagnostic imaging*; D005260:Female; D005767:Gastrointestinal Diseases / Q000000981:diagnostic imaging / Q000503:physiopathology* / Q000628:therapy*; D006801:Humans; D017237:Mitochondrial Encephalomyopathies / Q000000981:diagnostic imaging / Q000503:physiopathology* / Q000628:therapy*; D010289:Parenteral Nutrition, Total; D013270:Stomach / Q000000981:diagnostic imaging*; D014057:Tomography, X-Ray Computed; D014451:Ubiquinone / Q000627:therapeutic use; D014815:Vitamins / Q000627:therapeutic use
D014815:Vitamins; D014451:Ubiquinone