Hallervorden-Spatz病:三例报告并文献复习  

Hallervorden-Spatz disease: 3 cases report and review of literatures

作　　者：王诗男 孙斌 丁楠 李澍 

机构地区：[1]河北燕达医院神经内科,三河065201

出　　处：《中国现代神经疾病杂志》2014年第2期110-116,共7页Chinese Journal of Contemporary Neurology and Neurosurgery

摘　　要：目的探讨Hallervorden-Spatz病之临床和影像学特点。方法与结果回顾分析3例Hallervorden-Spatz病患者临床资料。其中2例临床表现为锥体外系症状,影像学符合典型"虎眼征",诊断明确;1例阳性体征为痉挛步态伴严重构音障碍,锥体外系症状不典型,缺乏不自主动作,T2WI显示典型"虎眼征",20年后复查时双侧苍白球前内侧高信号区明显缩小,符合不典型Hallervorden-Spatz病。结论典型Hallervorden-Spatz病儿童期发病、病程短,可根据以锥体外系症状为主的临床体征和T2WI显示典型"虎眼征"而获得早期诊断;非典型Hallervorden-Spatz病青少年期发病、病程长,锥体外系症状可不典型,T2WI"虎眼征"可随病程出现动态变化。Objective To review and explore the clinical and imaging characteristics of Hallervorden-Spatz disease （HSD）. Methods and Results The clinical features of 3 patients with HSD were analyzed retrospectively. Case 1 was male with the onset age of 3 and duration for 5 years. The main positive signs of case 1 were paroxysmal involuntary twist of limbs, accompanied by sweeping fingers and clenched fists, with intermittent opisthotonos. T2WI showed symmetrical hypointensity in bilateral globus pallidus with central pieces of uniform hyperintensity. Case 2 was female with the onset age of 8 and duration for 12 years. The main positive signs of case 2 were persistent head and neck dystonia showing excessive supine position. T2WI showed irregular hyperintensity focusing on anteromedial of globus pallidus. The main clinical manifestations of the 2 cases were extrapyramidal symptoms, which conformed to classical ＂eye-of-the-tiger sign＂. They were clearly diagnosed as typical HSD. Case 3 was male with the onset age of 15 and duration for 29 years. The main clinical features of case 3 included spastic gait and remarkable dysarthria. The extrapyramidal symptoms were atypical, which lacked of involuntary movements. Case 3 had classical ＂eye-of-the-tiger sign＂ at the age of 15 years old, however, ＂eye-of-the- tiger sign＂ （globus pallidus high signals） were obviously shrunk 20 years later. Therefore, this case belonged to atypical HSD. Conclusions According to the above mentioned, typical HSD was characterized by onset at childhood and short duration, and could be diagnosed according to extrapyramidal symptoms, and typical ＂eye-of-the-tiger sign＂ on T2WI. Atypical HSD was characterized by onset at childhood and relatively longer duration; the extrapyramidal symptoms might be atypical, and ＂eye-of-the- tiger sign＂ of T2WI probably played as dynamic changes along with the course extension.

关 键 词：泛酸激酶相关性神经退行性疾病 苍白球 磁共振成像 

分 类 号：R741[医药卫生—神经病学与精神病学]