AI Summary & Key Takeaways
AI InsightIn 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.
📌 3 Key Takeaways
Abstract
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.
Özet
Mitokondrial nörogastrointestinal ensefalomiyopati klinik olarak ciddi gastrointestinal dismotilite; kaşeksi; pitosis, oftalmoparesis veya her ikisi; periferal nöropati; lökoensefalopati ve kas dokuda mitokondrial bozukluklarla seyreden otozomal resesif geçiş gösteren multisistem tutulum gösteren bir hastalıktır. Gastrointestinal dismotiliteye bağlı olarak barsaklarda psödo obstrüksiyon ve ince barsak tutulumlu divertiküller görülür. Bu olgu sunumunda daha evvel mitokondrial nörogastrointestinal ensefalomiyopati tanısı konulmuş ve ileal divertikülit perforasyonu ile başvuran ameliyat sonrası ortaya çıkan solunum sistemi komplikasyonları ile kaybettiğimiz 32 yaşında bayan hastayı ve hastalığın karakteristik özelliklerini sunuyoruz.