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頁籤選單縮合
題 名 | Periventricular Nodular Heterotopia and Cardiovascular Defects=腦室旁節結狀灰質異位與心臟血管異常 |
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作 者 | 李志鴻; 衛優遊; 吳禹利; | 書刊名 | 長庚醫誌 |
卷 期 | 34:6 2011.11-12[民100.11-12] |
頁 次 | 頁628-635 |
分類號 | 415.9 |
關鍵詞 | 腦室旁節結狀灰質異位; 神經元移行障礙疾病; 心臟血管異常; 主動脈瘤; 肌絲蛋白A; Periventricular heterotopia; Neuronal migration disorder; Cardiovascular anomalies; Aortic aneurysm; Filamin A; |
語 文 | 英文(English) |
英文摘要 | Background: Periventricular nodular heterotopia (PNH) is a rare congenital anomaly of the brain presenting as nodular heterotopia along the paraventricular region. Ten cases of PNH complicated by aortic aneurysm have been reported in the literature, and 9 of them also had symptoms of Ehlers-Danlos syndrome (EDS). This study investigated the association of PNH and cardiovascular anomalies in Asians. Methods: Patients with a diagnosis of brain heterotopia on magnetic resonance imaging at Chang Gung Memorial Hospital between 1994 and 2010 were screened for both typical PNH and cardiovascular anomalies. The family members of the index cases were also evaluated. Results: One family (5 patients) and a sporadic case were found to have both typical PNH and cardiovascular anomalies. Two of them had aortic root aneurysm, one had aortic regurgitation, and one had minor valvular disease. Two patients had a history of seizures, but none of them had EDS. Conclusions: Clinical heterogeneity exists in the patients with PNH. Overlap in the symptoms of PNH, cardiovascular anomalies, aortic aneurysm, and EDS were reviewed. EDS is unusual in Asians with PNH. Aortic aneurysm and other valvular heart diseases are common cardiovascular anomalies in PNH patients. |
本系統中英文摘要資訊取自各篇刊載內容。