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KMID : 0812020080140010071
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Korean Journal of Neurogastroenterology and Motility
2008 Volume.14 No. 1 p.71 ~ p.74
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A Case of Chronic Intestinal Pseudo-obstruction with MELAS
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Han Sang-Hoon
Lee Joon-Seong
Park Jeong-Ho
Park Sun-Ah
Sung Ki-Bum
Hong Su-Jin
Lee Moon-Sung
Shim Chan-Sup
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Abstract
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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. (Kor J Neurogastroenterol Motil 2008;14:71-74)
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KEYWORD
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MELAS, Intestinalpseudo-obstruction
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