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Clinical Analysis of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome

小兒“粒線體腦肌肉病變合併乳酸血症及類中風症候群”(MELAS)之臨床分析

摘要


Background and purpose: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a disease characterized by recurrent headaches and epilepsy. The onset of symptoms is referred to as stroke-like episodes that are caused by mitochondrial dysfunction in small cerebral blood vessels. This study was performed to define the clinical features and diagnostic strategies in pediatric patients with MELAS in a medical center in Taiwan. Methods: A retrospective review of 6 patients with a diagnosis of MELAS was conducted with clinical, neuroradiologic, biochemical, and electrophysiologic analyses. Results: According to the biochemical studies, all of the patients had elevated lactic acid during the glucose-loading test. MELAS was initially suspected when magnetic resonance imaging (MRI) reported abnormal signal intensity in the cortex or basal ganglia that revealed cerebral atrophy and an infarction. Genetic testing of peripheral blood confirmed an A3243G transition within mitochondrial (mt) DNA in 4 patients and a T3291C transition in 1 patient. Seizures occurred in 4 cases (66%), and the mean age of onset was 7 years. We also evaluated electroencephalograms (EEGs) of 5 patients including 4 seizure cases and 1 case without seizures. Their EEGs showed focal or multifocal epileptiform activities and regional cortical dysfunction including the patient without seizures. In addition to seizures, there were recurrent headaches and vomiting in 4 cases (66%) and muscle weakness in 2 cases (33%) as early manifestations. Other features revealed a short stature and failure to thrive (66%), visual field defects (50%), cognitive impairment (66%), and cardiac involvement (16%). Conclusions: This study emphasizes that headaches and epileptic seizures are common in MELAS but are not the earliest presenting signs. Children with a short stature should be considered to possibly have a mitochondrial disease. A brain MRI evaluation is very useful in diagnosing suspected mitochondrial diseases. Epileptic seizures inMELAS seem difficult to control leading to frequent attacks in some patients.

並列摘要


Background and purpose: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a disease characterized by recurrent headaches and epilepsy. The onset of symptoms is referred to as stroke-like episodes that are caused by mitochondrial dysfunction in small cerebral blood vessels. This study was performed to define the clinical features and diagnostic strategies in pediatric patients with MELAS in a medical center in Taiwan. Methods: A retrospective review of 6 patients with a diagnosis of MELAS was conducted with clinical, neuroradiologic, biochemical, and electrophysiologic analyses. Results: According to the biochemical studies, all of the patients had elevated lactic acid during the glucose-loading test. MELAS was initially suspected when magnetic resonance imaging (MRI) reported abnormal signal intensity in the cortex or basal ganglia that revealed cerebral atrophy and an infarction. Genetic testing of peripheral blood confirmed an A3243G transition within mitochondrial (mt) DNA in 4 patients and a T3291C transition in 1 patient. Seizures occurred in 4 cases (66%), and the mean age of onset was 7 years. We also evaluated electroencephalograms (EEGs) of 5 patients including 4 seizure cases and 1 case without seizures. Their EEGs showed focal or multifocal epileptiform activities and regional cortical dysfunction including the patient without seizures. In addition to seizures, there were recurrent headaches and vomiting in 4 cases (66%) and muscle weakness in 2 cases (33%) as early manifestations. Other features revealed a short stature and failure to thrive (66%), visual field defects (50%), cognitive impairment (66%), and cardiac involvement (16%). Conclusions: This study emphasizes that headaches and epileptic seizures are common in MELAS but are not the earliest presenting signs. Children with a short stature should be considered to possibly have a mitochondrial disease. A brain MRI evaluation is very useful in diagnosing suspected mitochondrial diseases. Epileptic seizures inMELAS seem difficult to control leading to frequent attacks in some patients.

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