뇌전증지속상태를 초기증상으로 보인 멜라스증후군
Status Epilepticus as the Initial Manifestation of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome
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초록
Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is a multisystem mitochondrial disorder that is rarely observed in adulthood. We report a case of MELAS syndrome diagnosed in a 22-year-old man presented with status epilepticus (SE) without a preceding stroke-like episode. Genetic testing revealed a mutation of heteroplasmic m.3243A>G. MELAS should be suspected in patients with recurrent, uncontrolled SE with unexplained severe lactic acidosis.
Abstract
Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is a multisystem mitochondrial disorder that is rarely observed in adulthood. We report a case of MELAS syndrome diagnosed in a 22-year-old man presented with status epilepticus (SE) without a preceding stroke-like episode. Genetic testing revealed a mutation of heteroplasmic m.3243A>G. MELAS should be suspected in patients with recurrent, uncontrolled SE with unexplained severe lactic acidosis.
참고문헌 (10)
- Pavlakis SG, "Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes : a distinctive clinical syndrome", Ann Neurol, 16, pp.481~488 (1984)
- Feddersen B, "Aggressive confusional state as a clinical manifestation of status epilepticus in MELAS", Neurology, 61, pp.1149~1150 (2003)
- Lee HN, "Epilepsy char-acteristics and clinical outcome in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS)", Pediatr Neurol, 64, pp.59~65 (2016)
- Leff AP, "Complex partial status epilepticus in late-onset MELAS", Epilepsia, pp.39438~39441 (1998)
- El-Hattab AW, "MELAS syndrome : clinical manifestations, pathogenesis, and treatment options", Mol Genet Metab, 116, pp.4~12 (2015)
- Corda D, ""Erratic" complex partial status epilepticus as a presenting feature of MELAS", Epilepsy Behav, 8, pp.655~658 (2006)
- Lowenstein DH, "Status epilepticus", N Engl J Med, 338, pp.970~976 (1998)
- Wijdicks EF, "Acute acid-base disorders associated with status epilepticus", Mayo Clin Proc, 69, pp.1044~1046 (1994)
- Santa KM, "Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes(MELAS)syndrome", Pharmacotherapy, 30, pp.1179~1196 (2010)
- 김효동, "급성 뇌경색 환자와 구별되는 급성기 멜라스증후군 환자의 특징적인 영상", 대한신경과학회지, 38(1), pp.37~41 (2020), 대한신경과학회