Diagnosis and management of MNGIE syndrome in children: case report and review of the literature

Diagnosis and management of MNGIE syndrome in children: case report and review of the literature

Teitelbaum JE; Berde CB; Nurko S; Buonomo C; Perez-Atayde AR; Fox VL

Journal Of Pediatric Gastroenterology And Nutrition

2002

Child; Female; Humans; Parenteral Nutrition; adolescent; Tomography; X-Ray Computed; Duodenum/radiography; Gastrointestinal Diseases/physiopathology/radiography/therapy; Mitochondrial Encephalomyopathies/physiopathology/radiography/therapy; Stomach/radiography; Total; Ubiquinone/therapeutic use; Vitamins/therapeutic use

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.

2002

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