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| 題 名 | A Study of Genetic Leukodystrophies in Chinese Children=國人兒童的遺傳性腦白質營養不良症的研究 |
|---|---|
| 作 者 | 王本榮; 王作仁; 沈友仁; | 書刊名 | 中華民國小兒科醫學會雜誌 |
| 卷 期 | 33:1 民81.01-02 |
| 頁 次 | 頁44-58 |
| 分類號 | 417.5913 |
| 關鍵詞 | 兒童; 腦白質; 遺傳性; 營養不良症; |
| 語 文 | 英文(English) |
| 中文摘要 | 從1986年至1991年間,台大小兒科共診斷12名遺傳性腦白質營養不良症,包括9名異染性腦白質營養不良症(以下MLD),1名球細胞腦白質營養不良症(以下GLD),1名新生兒型腎上腺腦白質營養不良症(以下NALD)及1名臨床上疑似Pelizaeus-Merzbacher病(以下P-M病),本研究綜合報告這些腦白質營養不良症的臨床經過、生化及神經生理學研究,及神經放射學所見。MLD,GLD及NALD的診斷分別由血清arylsulfatase A活性,白血球galactocerebrosidase活性,及血清極長鏈脂肪酸的分析來確定。而P-M病的懷疑主要由於其臨床表徵,放射線及腦幹聽覺誘發電位的所見。6名MLD,1名GLD及1名NALD的腦幹聽覺誘發電位及體性感覺誘發電位皆不正常,其異常程度與疾病的進行程度有關。9名MLD及1名GLD病人都有中重度神經傳導速度遲緩,顯示併有末梢神經的脫髓性病變。MLD,NALD病人的腦CT或MRI顯現腦白質異常,而GLD的腦CT顯示進行性腦萎縮。本研究的結論是:異染性白質營養不良症在中國的孩童較爲常見。而遺傳性白質營養不良症須由生化學檢查,如酵素分析及極長鏈脂肪酸的測定來確定診斷,而臨床觀察,神經學檢查,配合腦波,神經傳導速度檢查,誘發電位等神經生理學檢查,及CT,MRI等腦放射線檢查有助於界定所侵犯部位,對早期診斷,預後的評估都有助益。 |
| 英文摘要 | During 1986 and 1991, we had diagnosed 12 cases with genetic leukodystrophy including 9 cases with metachromatic leukodystrophy (MLD), 1 case with globoid cell leukodystrophy (GLD, Krabbe's disease), 1 case with neonatal adrenoleukodystropky (NALD), and the other with probable Pelizaeus-Merzbacher disease (P-M disease). The clinical, biochemical, neurophysiological and neuroradiological features were reported. The diagnosis of MLD, GLD, NALD was confirmed by means of the measurement of serum arylsulfatase A activity, leukocyte galactocerebrosidase activity and serum very long chain fatty acids, respectively. The P-M disease was highly suspected according to clinical picture and evoked potential findings. All the brain-stem auditary evoked potentials (BAEPs) and the scalp somatosensory evoked potentials (scalp SEPs) studies in 6 patients with MLD, 1 patient with GLD and 1 patient with NALD were abnormal. In patients with MLD or GLD, the nerve conduction velocity (NCV) studies showed moderate to severe slowing suggesting peripheral demyelinating neuropathy. Brain CT in patients with MLD or NALD demonstrated marked lucency in the white matter. Brain CTs in the patient with GLD showed progressive brain atrophy. In conclusion, though final diagnosis of genetic leukodystrophy should be established throughout biochemical studies, the neurophysiologlcal and neuroimaging studies are of value as an aid to early diagnosis, prediction of clinical course and evaluation of prognosis for genetic leukodystrophy. |
本系統中英文摘要資訊取自各篇刊載內容。