“虎眼征”并非Hallervorden-Spatz综合征特异性表现的基因学研究  

Genetic analysis showed "eye of the tiger sign" not only belonging to Hallervorden-Spatz syndrome

作　　者：王洋[1] 毕鸿雁[1] 赵伟秦[1] 段洪连[1] 

机构地区：[1]首都医科大学北京友谊医院神经内科,北京100050

出　　处：《临床和实验医学杂志》2012年第5期330-331,334,共3页Journal of Clinical and Experimental Medicine

摘　　要：目的探讨"虎眼征"并非Hallervorden-Spatz综合征特异性表现。方法对1例有锥体外系损害表现的患者及其表现正常的母亲进行泛酸激酶-2(PANK2)基因序列分析。结果患者及其母亲PANK2基因检测未发现突变。患者最终确诊为"海洛因脑病"。结论 "虎眼征"并非只出现在Hallervorden-Spatz综合征中,需仔细询问患者病史,以防误诊。Objective To explore that the ＂eye of the tiger sign＂ is not the only special manifestation of Hallervorden-Spatz syndrome.Methods Sequence analysis on Pantothenate kinase-2（PANK2） gene had been carried out in a patient with extrapyramidal impairment and his healthy mother.Results No mutation had been found in PANK2 gene of this patient and his mother,and this patient finally diagnosed as heroin encephalopathy.Conclusion ＂Eye of the tiger sign＂ is not merely occurred in Hallervorden-Spatz syndrome.The history of patient should be carefully inquired in order to avoid misdiagnosis.

关 键 词：虎眼征 海洛因脑病 基因检测 HALLERVORDEN-SPATZ综合征 

分 类 号：R749.6[医药卫生—神经病学与精神病学]