Mitochondrial neurogastrointestinal encephalomyopathy: diagnostic features of two patients.
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.
Soykan
Irfan
I
Ankara University Medical School, Ibn-i Sina Hospital, Division of Gastroenterology, Ankara, Turkey. soykan@dialup.ankara.edu.tr
Cetinkaya
Hulya
H
Erdem
Sevim
S
Tan
Ersin
E
Aydin
Fatih
F
Bahar
Kadir
K
Ozden
Ali
A
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D005260:Female; D005767:Gastrointestinal Diseases / Q000175:diagnosis*; D006801:Humans; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis*; D009132:Muscles / Q000473:pathology; D013577:Syndrome