Orrell R W, Amrolia P J, Heald A, Cleland P G, Owen J S, Morgan-Hughes J A, Harding A E, Marsden C D
University Department of Clinical Neurology, National Hospital, London, UK.
Neurology. 1995 Mar;45(3 Pt 1):487-92. doi: 10.1212/wnl.45.3.487.
We describe an example of a variant of Hallervorden-Spatz disease, characterized by hypoprebeta-lipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome), in an 18-year-old woman who presented with longstanding intellectual subnormality, night blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria and dysphagia. Investigation showed acanthocytosis and hypoprebetalipoproteinemia, and electroretinograms were typical of tapetoretinal degeneration. T2-weighted MRI showed decreased signal intensity in the pallidal nuclei with central hyperintensity, constituting the "eye-of-the-tiger" sign. The patient's sister and mother have a similar lipid disorder but no retinal or neurologic disease. We also report two patients with clinical and radiologic features similar to those of the patient with HARP syndrome but who had normal lipid studies. These various combinations of components of HARP syndrome may be caused by several distinct genetic diseases or may represent variable manifestations of a contiguous gene defect.
我们描述了一例Hallervorden-Spatz病变异型的病例，其特征为低前β-脂蛋白血症、棘红细胞增多症、色素性视网膜炎和苍白球变性（HARP综合征），患者为一名18岁女性，有长期智力发育迟缓、夜盲症病史，并有2年口颊舌肌张力障碍病史，导致构音障碍和吞咽困难。检查发现棘红细胞增多症和低前β-脂蛋白血症，视网膜电图表现为视网膜色素变性的典型特征。T2加权磁共振成像显示苍白球核信号强度降低，中央高信号，构成“虎眼征”。患者的姐姐和母亲有类似的脂质紊乱，但无视网膜或神经系统疾病。我们还报告了两名患者，其临床和影像学特征与HARP综合征患者相似，但脂质研究正常。HARP综合征这些不同的组成成分组合可能由几种不同的遗传疾病引起，也可能代表相邻基因缺陷的可变表现。
