A previously diagnosed mitochondrial neurogastrointestinal encephalomyopathy patient presenting with perforated ileal diverticulitis.
Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive multisystem disorder characterized clinically by severe gastrointestinal dysmotility; cachexia; ptosis, opthalmoparesis or both; peripheral neuropathy; leukoencephalopathy and mitochondrial abnormalities in muscle. Gastrointestinal dysmotility causes intestinal pseudo-obstruction and small intestinal diverticula. In this case report, we present a previously diagnosed 32-year-old female mitochondrial neurogastrointestinal encephalomyopathy syndrome patient who was hospitalized and operated due to ileal diverticulitis perforation and died due to postoperative respiratory complications, and we discuss the characteristic manifestations of the disease.
Aksoy
Fikret
F
Department of 2nd General Surgery, Göztepe Training and Research Hospital, Istanbul, Turkey. dr_fikret@yahoo.com
Demirel
Gökhan
G
Bilgiç
Tayfun
T
Güngör
Ibrahim Gürhan
IG
Ozçelik
Alp
A
D000328:Adult; D003937:Diagnosis, Differential; D013505:Digestive System Surgical Procedures / Q000379:methods; D004238:Diverticulitis / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007077:Ileal Diseases / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000175:diagnosis*; D012422:Rupture, Spontaneous