Korean J Neurogastroenterol Motil.
2008 Jun;14(1):71-74.
A Case of Chronic Intestinal Pseudo-obstruction with MELAS
- Affiliations
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- 1Department of Internal Medicine, Soonchunhyang University School of Medicine, Bucheon, Korea. sjhong@schbc.ac.kr
- 2Department of Neurology, Soonchunhyang University School of Medicine, Bucheon, Korea.
Abstract
- 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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