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題 名 | Childhood MELAS Syndrome Presenting with Seizure and Cortical Blindness: A Case Report=以抽搐及皮質性眼盲表現之MELAS症候群: 一病例報告 |
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作 者 | 劉愛敏; 麥淑珍; 蔡啟仁; 遲景上; | 書刊名 | 中華醫學雜誌 |
卷 期 | 61:12 1998.12[民87.12] |
頁 次 | 頁730-735 |
分類號 | 417.6715 |
關鍵詞 | 皮質性眼盲; MELAS症候群; 粒線體去氧核糖核酸基因突變; 抽搐; Cortical blindness; MELAS syndrome; Mitochondrial DNA point mutation; Seizure; |
語 文 | 英文(English) |
中文摘要 | 此病例是一位11歲男孩,臨床上表現抽搐及皮質性失明,其腦部核磁共振影像 檢查發現紋狀體於 T �等X現高訊號, 而兩側枕葉及小腦半球於 T �筒M T �祝狴X現長訊號 的改變。 腦脊髓液及血中的乳酸均升高,各為 56.7mg/dl 和 34.2mg/dl。股四頭肌的肌肉 切片發現有紅色襤褸肌纖維和粒線體去氧核糖核酸分析發現於核��酸位置 3243 有 A → G 的基因突變。因此我們又分析病人母親股四頭肌的粒線體去氧核糖核酸,發現同樣的結果。 由上述的臨床症狀、影像檢查及實驗數據,此病人被診斷為 MELAS 症候群。 |
英文摘要 | An 11-year-old boy presented with seizure and cortical blindness. A T1 weighted magnetic resonance image of the brain showed high signal intensity in the bilateral corpus striatum and long T1 and T2 changes in the bilateral occipital and cerebellar hemispheric regions. Increased cerebrospinal fluid lactate concentration of 56.7 mg/dl and blood lactate concentration of 34.2 mg/dl were also noted. A muscle biopsy obtained from the quadriceps femoris muscle showed the presence of ragged red fibers and mitochondrial DNA (mtDNA) analysis showed an A → G mutation at nucleotide position 3243. MtDNA analysis of the patient's mother revealed the same mutation. These findings indicated MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes). |
本系統中英文摘要資訊取自各篇刊載內容。