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，T₂W“I 虎眼征”可随病程出现动态变化。

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

Abstract: 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" sigh. 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.

Key words: Pantothenate kinase-associated neurodegeneration, Globus pallidus, Magnetic resonance imaging