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題名 | Aicardi's Syndrome: A Case Report=Aicardi氏症候群:壹病例報告 |
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作者 | 莊毓民; 吳秀美; 凌憬峰; 張政彥; | 書刊名 | 中華放射線醫學雜誌 |
卷期 | 26:4 2001.08[民90.08] |
頁次 | 頁179-183 |
分類號 | 415.932 |
關鍵詞 | Aicardi氏症候群; 腦部磁振造影; 皮質酮刺激素; Aicardi's syndrome; Magnetic resonance imaging; Corticotropin; |
語文 | 英文(English) |
中文摘要 | Aicardi氏症候群包含了胎兒癲癇,胼胝體缺損,脊椎體畸形以及視網膜嵌板形缺損。其病因至今未明。然而,X性染色體突變是最常被觀察到的致病因。在此提出一個三歲八月大的女性病例,其因頻發癲癇住院接受皮質酮刺激素治療我們在此病患之腦部磁振造影中可找到典型的病兆包括胼胝體缺損,小腦蚓蟲部缺損及多發性大腦皮質移行不良。根據這些影像發現再佐以眼底檢查所見之視網膜嵌板形缺損以及臨床之智能障礙及腦波電圖發現將可有效診斷此一症候群。據此,我們認為腦部磁振造影對此疾病診斷是必要的。此外,我們所給予的皮質酮刺激素治療雖然減少了腦波上的異常,但是在後續28天的追蹤卻不見癲癇頻率有效的降低。 |
英文摘要 | Aicardi’s syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects. The etiology is, as yet, unknown. The most likely cause, however, is an X-linked mutational event that is lethal in males. This paper presents a girl 3 years 8 months old with Aicardi's syndrome who received corticotropin therapy for intractable seizures. Brain magnetic resonance imaging (MRI) of this girl revealed typical findings of dysgenesis of the corpus callosum, hypoplasia of the inferior vermis, and obvious heterotopic nodular gray matter over the lateral wall of the left lateral ventricle. The above findings associated with the ophthalmic finding of chorioretinal lacunar defect, a clinical history of metal subnormality, and electroencephalographic pattern could be well correlated with a confident diagnosis of Aicardi's syndrome. Thus, we suggest that MRI is essential in establishing this diagnosis. In addition, while corticotropin therapy reversed the EEG abnormality, it has had no immediate effect within short-term (1-month) follow up. |
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