棘红细胞增多症、色素性视网膜炎、苍白球变性。两例无血脂异常的病例报告。

Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities.

作者信息

Malandrini A, Cesaretti S, Mulinari M, Palmeri S, Fabrizi G M, Villanova M, Parrotta E, Montagnani A, Montagnani M, Anichini M, Guazzi G C

机构信息

Institute of Neurological Sciences, University of Siena, Italy.

出版信息

J Neurol Sci. 1996 Sep 1;140(1-2):129-31. doi: 10.1016/0022-510x(96)00155-4.

DOI:10.1016/0022-510x(96)00155-4

PMID:8866438

Abstract

We describe two unrelated patients with Hallervorden-Spatz, disease characterized by prominent facio-bucco-lingual dyskinesia. Acanthocytosis and retinitis pigmentosa were additional findings. Brain MRI showed the typical 'tiger's eye' image of the globus pallidus. This phenotype closely resembled the so-called HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa and pallidal degeneration), but extensive serum lipid study failed to demonstrate any lipoprotein abnormality. Our results raise the question whether HARP syndrome is an autonomous entity or a particular phenotype of Hallervorden-Spatz disease.

摘要

我们描述了两名患有哈勒沃登-施帕茨病（Hallervorden-Spatz disease）的无血缘关系患者，其特征为显著的面-颊-舌运动障碍。棘红细胞增多症和色素性视网膜炎是另外的发现。脑部磁共振成像（MRI）显示苍白球典型的“虎眼”图像。这种表型与所谓的HARP综合征（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）极为相似，但广泛的血清脂质研究未能证实任何脂蛋白异常。我们的结果提出了一个问题，即HARP综合征是一个独立的疾病实体还是哈勒沃登-施帕茨病的一种特殊表型。