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題 名 | Clinical Manifestation of Mitochondrial Diseases in Children=兒童粒線體病變之臨床表徵 |
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作 者 | 麥淑珍; 遲景上; 陳昭惠; 夏文傑; | 書刊名 | 中華民國小兒科醫學會雜誌 |
卷 期 | 34:4 民82.07-08 |
頁 次 | 頁247-256 |
分類號 | 417.583 |
關鍵詞 | 兒童; 粒線體病變; |
語 文 | 英文(English) |
中文摘要 | 兒童粒線體腦肌病變於臨床上並不常見,14名年齡由4個月至14歲之兒童,包括10名男生,5名女生,經由臨床表徵及肌肉之粒線體異常被診斷為此症。這些病人的臨床診斷包括Leigh syndrome, 3; Menke's syndrome, 3; Kearns-Sayre syndrome, 2; My-oclonic epilepsy, l; fatal infantile mitochon-drial myopathy, l; fatty acid oxidation defect, 2;及myopathy c cardiopathy, 1.受影響之身體器官除卻肌肉外尚包括中樞神經系統,10;心臟,6;眼睛,2;肝臟,2;及腎臟,2.這些病人的臨床表徵包括肌無力、抽搐、肌抽躍、心智遲緩、眼振、步代不穩、眼球肌肉麻痺、視網膜色素沈著、肌肉萎縮、肌肉僵硬等。14名病人中,有九人呈現異常之口服葡萄糖升乳酸試驗;4名病人可於肌肉切片染色中發現紅色襤褸肌細胞。異常形態之粒線體包括異常之肌細膜下粒線體堆積,異常之粒線體塉形態,包括管狀、同心圓形、平行線狀,有些粒線體內含有球狀內涵體。其中一名 Leigh syndrome之病人有作屍髓腦幹切片,病理發現有鞘髓神經之鞘髓分裂現象。 |
英文摘要 | Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three; Kearns-Sayre syndrome, two; myoclonic epilepsy with ragged fibres, one; and infant-onset progressive myoclonic epilepsy, one; fatal infantile mitochondrial myopathy, one; fatty acid oxidation defect, two; and myopathy with cardiopathy, one. Organs involved other than muscles included central nervous system, ten; heart, six; eye, two; liver, two; and kidney, two. Clinical manifestations varied to include hypotonia, seizures, myoclonus, mental retardation, nystagmus, ataxia, ptosis, ophthalmoplegia, retinal degeneration, muscle atrophy, spasticity etc. Nine had an abnormal rise in lactate after glucose loading. Ragged-red fibres were found in four patients. Abnormal mitochondrial morphology included abnormal accumulation, abnormal cristae pattern of tubular, concentric, or parallel form, some contained osmiophilic inclusion bodies. One patient of Leigh syndrome had had brain necropsy which showed intramyelin splitting of myelinated axons. |
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