泛酸激酶2相关的神经变性病的临床特点(附1例报告)  

Clinical characteristics of pantothenate kinase-associated neurodegeneration( report of 1 case)

作　　者：李雯雯[1] 孙启英[1] 易芳[1] 周亚芳[1] 胡雅岑 姚凌雁[1] 罗梦川[1] 许宏伟[1] 周琳[1] 

机构地区：[1]中南大学湘雅医院老年病学神经内科,长沙410008

出　　处：《临床神经病学杂志》2018年第1期61-63,共3页Journal of Clinical Neurology

基　　金：国家自然科学青年基金项目(81401059);省重点研发计划-应用基础研究重点项目(2016JC2060)

摘　　要：目的探讨泛酸激酶2相关的神经变性病(PKAN)的临床特征。方法回顾性分析1例PKAN患者的临床资料。结果本例患者的主要临床表现为肌张力障碍、智能减退、言语不清及腱反射亢进。影像学检查表现为头颅MRI T2加权像和磁敏感成像呈双侧苍白球对称性低信号,其前内侧出现高信号。本例患者泛酸激酶2(PANK2)基因纯合致病突变,为c.1069 C>T(p.Arg357Trp)。结论 PKAN临床表现主要为锥体外系症状,但也可伴智能减退、言语障碍及锥体束征,头颅MRI典型表现为"虎眼征"。PANK2基因c.1069C>T(p.Arg357Trp)可能为中国PKAN患者一个突变热点。Objective To investigate the clinical characteristics of pantothenate kinase-associated neurodegeneration （PKAN）. Methods The clinical data of 1 PKAN patient was analyzed retrospectively. Results The main symptoms of this patient were dystonia, aponoia, dysarthria and tendon hyperreflexia. The imaging examination showed symmetrical low signal in bilateral globus pallidus on brain MRI T2 weighted and magnetic susceptibility weighted imaging, and high signal in its anteromedial. The homozygous for e. 1069C 〉 T （p. R357W） in PANK2 gene was detected in this patient. Conclusions The primary symptom of PKAN is extrapyramidal signs. However, PKAN patients can also emerge cognitive impairment, dysarthria and pyramidal signs. Typical neuroimaging feature in PKAN patients is ＂eye of the tiger＂ sign on brain MRI. PANK2 gene c. 1069C 〉 T （p. Arg357Trp） is probably a hot spot in chinese PKAN patients.

关 键 词：泛酸激酶2相关的神经变性病 泛酸激酶2基因突变 虎眼征 

分 类 号：R741[医药卫生—神经病学与精神病学]