粒線體疾病是一群相當複雜且異質性的多系統基因疾患，其診斷往往需要多方面的評估，嬰兒及兒童的粒線體疾病，除了已知的特殊症候群外，有很多是屬於無法歸類的非症候群粒線體疾病。本研究目的是描述嬰兒及兒童症候群及非症候群粒線體疾病的臨床表徵、實驗室生化檢驗、神經影像學表現、組織病理學發現及基因分析。
從1983年1月到2009年6月，我們共收集了69位診斷為粒線體疾病的個案，發病年齡分布為1個月到15歲 (中位數15個月)，其中49.3﹪屬於症候群粒線體疾病，50.7﹪為非症候群粒線體疾病。粒線體疾病的臨床表現相當多樣化且各個器官系統均可能受到侵犯，其中以中樞神經系統為臨床表現的比例最高(88.4﹪)。實驗室檢查方面，40.6% 病人的血液乳酸值上升而84.8% 病人的口服葡萄糖刺激試驗為陽性。影像學的表現與臨床表現同樣多變，腦部核磁共振影像顯示26.2%粒線體疾病病人(18.2%症候群粒線體疾病及34.4%非症候群粒線體疾病) 最初的腦部核磁共振檢查是正常的，73.8%粒線體疾病病人於最初的腦部核磁共振檢查出現異常，最常見的異常訊號位於腦部基底核的背殼 (45.5%症候群粒線體疾病及15.6%非症候群粒線體疾病)，腦部氫核磁共振光譜中有31.8%病人出現乳酸值高峰。肌肉切片之光學顯微鏡檢查，51.6%病人可見紅色襤褸肌細胞，粒線體基因突變的陽性率為27.5%。追蹤病人預後可發現，愈早發病則死亡率及致死率愈高。
本篇研究詳述了嬰兒及兒童粒線體疾病多樣化的臨床表現方式以提供兒科醫師如何早期發現粒線體疾病，而口服葡萄糖刺激試驗為篩選粒線體疾病的有效方法。

Mitochondrial diseases (MDs) are a group of clinically and genetically heterogeneous multisystem disorders. Therefore the diagnosis of MDs is based on a multidisciplinary approach. In addition to well known syndromic mitochondrial diseases (SMDs), nonsyndromic mitochondrial diseases (NSMDs) are not uncommon in infants and children.The aim of this study is to compare with the clinical symptoms and signs, laboratory findings, neuroimaging features, histopathological results, and outcome between SMDs and NSMDs.
From January 1983 to June 2009, 69 patients diagnosed with MDs. The age of disease onset was 1 month to 15 years (median 15 months). Among them, 49.3% of petients had SMDs and 50.7% had NSMDs. The commonest clinical manifestation was central nervous system symptoms (88.4%). 40.6% of the patients showed elevation of the initial blood lactate levels and 84.8% revealed abnormal results after oral glucose challenge test. Seventeen patients, 18.2% of SMDs and 34.4% of NSMDs, presented initial normal brain MR imaging features. Forty-eight patients (73.8%) had initial brain MR imaging abnormalities. The most common abnormalities were abnormal signal intensity over the putamen (45.5% of SMDs and 15.6% of NSMDs).Lactate peaks were detected on initial MR spectroscopy in 31.8% of patients. The presence of ragged red fibers was shown in 51.6% of the cases. The positive rate of mitochondrial gene mutation was 27.5%. The younger the age at the initial disease onset, the higher frequency of mortality and morbidity were observed.
This study describes the notorious variability in the presentation of MDs. Greater familiarity those symptoms will facilitate a more accurate diagnosis. Oral glucose lactate stimulation test is an effective screening method for helping the diagnosis of MDs.

標題 頁碼
壹、 中文摘要 ……………………………1
貳、 英文摘要 ……………………………3
參、 縮寫檢索表………………………… 5
肆、 緒論 ……………………………6
伍、 研究動機 ……………………………31
陸、 材料與方法 …………………………32
柒、 結果 ……………………………47
捌、 討論 ……………………………55
玖、 參考文獻 ……………………………63
壹拾、 圖表與說明………………………… 75
附錄 ………………………………………106

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