MELAS 증후군에 동반된 만성 가성 장폐쇄증 1예 (A Case of Chronic Intestinal Pseudo-obstruction with MELAS)

서지정보

· 발행기관 : 대한소화기 기능성질환∙운동학회
· 수록지 정보 : Journal of Neurogastroenterology and Motility (JNM) / 14권 / 1호 / 71 ~ 74페이지
· 저자명 : 한상훈, 홍수진, 박정호, 박선아, 이준성, 이문성, 성기범, 심찬섭

초록

Mitochondrial DNA disorder is a heterogenous group of diseases that is related to disorders of mitochondrial (mt) energy metabolism. MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episode) is a major maternally inherited multi-systemic disorder, in which 80% of cases are associated with mt DNA A3243G point mutation. The clinical course of MELAS is highly variable, ranging from asymptomatic to progressive muscle weakness, seizures, stroke-like episodes, encephalopathy with lactic acidosis and premature death. However, gastrointestinal symptoms in patients with MELAS are seldom documented. We report a 17-year-male with MELAS presenting chronic gastrointestinal pseudo-obstruction. We confirmed that he had the classical A3243G mt DNA point mutation.

영어초록

Mitochondrial DNA disorder is a heterogenous group of diseases that is related to disorders of mitochondrial (mt) energy metabolism. MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episode) is a major maternally inherited multi-systemic disorder, in which 80% of cases are associated with mt DNA A3243G point mutation. The clinical course of MELAS is highly variable, ranging from asymptomatic to progressive muscle weakness, seizures, stroke-like episodes, encephalopathy with lactic acidosis and premature death. However, gastrointestinal symptoms in patients with MELAS are seldom documented. We report a 17-year-male with MELAS presenting chronic gastrointestinal pseudo-obstruction. We confirmed that he had the classical A3243G mt DNA point mutation.

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