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頁籤選單縮合
題名 | Syndrome of Mitochondrial Myopathy of the Heart and Skeletal Muscle, Congenital Cataract and Lactic Acidosis=心臟及骨骼肌之粒線體病變,先天性白內障及高乳酸血症候群:一家族病例報告 |
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作者 | 廖穗綾; 黃秀芬; 林如立; 賴申豪; 周怡宏; 郭啟昱; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷期 | 44:6 民92.11-12 |
頁次 | 頁360-364 |
分類號 | 416.744 |
關鍵詞 | 白內障; 高乳酸血症候群; Mitochondrial cardiomyopathy; Myopathy; Congenital cataract; Lactic acidosis; |
語文 | 英文(English) |
中文摘要 | 心髒及骨骼肌之粒線體病變,先天性白內障及高乳酸血症候群是一種非常罕見的疾病而且目前被認爲是一種自體隱性遺傳之疾病。且有兩種亞型來表現,既新生兒致死型與成人型。我們此次報告同一家庭的兩起病例,並與過去文獻所報告之23例病例,就其臨床和組織病理學之表徵做比較分析。有關此二病之組織化學與顯微結構之發現將有詳細之描述。組織病理學上在心肌及骨骼肌中發現有不正常之粒腺體增加之情形。然而組織染色證明粒腺體中之呼吸鏈酵素在正常範圍內。雖說這兩起病例有嚴重之高乳酸血症,但其焦葡萄酸鹽(pyruvate)氧化之速度並未有明顯之聯礙。 |
英文摘要 | The syndrome of hypertrophic cardiomyopathy, mitochondrial myopathy, congenital cataract, and lactic acidosis is a rare disease. It is now considered as an autosomal recessive inheritance. Two forms of the syndrome can be identified, the neonatal fatal and the benign adult variants. We report on 2 cases from a family and compared their clinical and histopathological features with 23 other patients previously reported in the literature. Detailed histochemical and ultrastructural findings of these two patients are outlined in the text. Histopathological features revealed abnormal mitochondrial proliferation in the heart and skeletal muscles. Tissue staining showed the activities of several enzymes of the mitochondrial respiratory chain to be within normal range. Despite severe lactic acidemia, no defect was found in the rate of pyruvate oxidation among these patients. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。