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Mitochondrial neurogastrointestinal encephalomyopathy: diagnostic features of two patients
Irfan Soykan1, Hulya Cetinkaya, Sevim Erdem
1Ankara University Medical School, Ibn-i Sina Hospital, Division of Gastroenterology, Ankara, Turkey. soykan@dialup.ankara.edu.tr
Journal of Clinical Gastroenterology
|March 22, 2002
Abstract:
Mitochondrial neurogastrointestinal encephalomyopathy is a rare, multisystem disorder characterized by gastrointestinal dysmotility, ptosis, neurologic findings (e.g., peripheral neuropathy), leukoencephalopathy, and thin body habitus. Gastrointestinal motility studies and skeletal muscle biopsy are recommended diagnostic tools. We report two patients that highlight the diagnostic characteristics of this rare entity.