本文關(guān)鍵詞： 腎上腺腦白質(zhì)營養(yǎng)不良 極長鏈飽和脂肪酸 腦磁共振表現(xiàn) 基因檢測　出處：《中風(fēng)與神經(jīng)疾病雜志》2017年03期 　論文類型：期刊論文

【摘要】：目的探討腎上腺腦白質(zhì)營養(yǎng)不良的臨床特征及診斷方法。方法回顧性分析我院就診的2例腎上腺腦白質(zhì)營養(yǎng)不良患者的臨床表現(xiàn)、影像特征、治療和隨訪結(jié)果。結(jié)果病例1為24歲男性,以行走不穩(wěn)為首發(fā)癥狀,腦磁共振表現(xiàn)雙側(cè)丘腦對稱性斑片狀稍長T_2信號,血清C_(24)、C_(26)極長鏈飽和脂肪酸的水平顯著增高,ABCD1基因診斷存在c.1849CT(p.Arg617Cys)半合子突變,進(jìn)行對癥治療并隨訪3 m,癥狀無明顯改變;病例2為12歲男性,以癲癇為首發(fā)癥狀,腦磁共振表現(xiàn)雙側(cè)顳葉枕葉頂葉白質(zhì)異常信號影,血清C_(24)、C_(26)極長鏈飽和脂肪酸的水平增高,ABCD1基因診斷及腦白質(zhì)營養(yǎng)不良基因診斷均未發(fā)現(xiàn)已知致病或者疑似致病突變,經(jīng)抗癲癇治療并3 m后隨訪,癲癇未再發(fā)作。結(jié)論腎上腺腦白質(zhì)營養(yǎng)不良的診斷需要結(jié)合臨床表現(xiàn)及影像學(xué)檢查,并且血清C_(24)、C_(26)極長鏈飽和脂肪酸的水平增高是確診的重要依據(jù)。目前主要是對癥治療。
[Abstract]:Objective to investigate the clinical features and diagnostic methods of adrenal leukodystrophy. Methods the clinical and imaging features of 2 patients with adrenal leukodystrophy were retrospectively analyzed. Results case 1 was a 24-year-old male, with walking instability as the first symptom, bilateral thalamic symmetrical plaque slightly longer T _ 2 signal on MRI, serum Che _ 2). The level of extremely long chain saturated fatty acids (VLFA) was significantly increased in the diagnosis of ABCD1 gene with c. 1849 CTP. Arg617 Cys.) haplozygote mutation. Symptomatic treatment was performed and followed up for 3 m.The symptoms did not change significantly. Case 2 was a 12-year-old male, with epilepsy as the first symptom, abnormal white matter signal in the parietal lobe of the temporal temporal lobe on MRI, and a high level of very long chain saturated fatty acids in serum C _ (+ +) _ (24) and C _ (26) in the parietal lobe of the temporal lobe. ABCD1 gene diagnosis and leukodystrophy gene diagnosis showed no known pathogenicity or suspected mutation, and were treated with antiepileptic therapy and followed up for 3 m. Conclusion the diagnosis of adrenal leukodystrophy should be combined with clinical manifestation and imaging examination, and serum Cass 24). High level of very long chain saturated fatty acids is an important basis for diagnosis.
【作者單位】： 鄭州大學(xué)第一附屬醫(yī)院神經(jīng)內(nèi)科;
【基金】：河南省醫(yī)學(xué)科技攻關(guān)計劃重點項目(No.201502005) 河南省科技廳科技攻關(guān)項目(No.112102310158)
【分類號】：R741
【正文快照】： 腎上腺腦白質(zhì)營養(yǎng)不良(adrenoleukodystrophy,ALD)是一種罕見的、致命的神經(jīng)變性疾病[1],其病因主要是ATP結(jié)合匣D亞組膜1(ABCD1)基因發(fā)生突變后,其表達(dá)的ALD蛋白(ALDP)功能異常,使得極長鏈脂肪酸(VLCFAs)不能轉(zhuǎn)膜進(jìn)入細(xì)胞溶酶體進(jìn)行脂肪酸氧化,VLCFAs在細(xì)胞和體液內(nèi)異常堆積,，

本文編號：1451218