HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS-PIGMENTOSA, AND PALLIDAL DEGENERATION (HARP SYNDROME)

被引:46
作者
HIGGINS, JJ [1 ]
PATTERSON, MC [1 ]
PAPADOPOULOS, NM [1 ]
BRADY, RO [1 ]
PENTCHEV, PG [1 ]
BARTON, NW [1 ]
机构
[1] NIH,WARREN G MAGNUSON CLIN CTR,DEPT CLIN PATHOL,BETHESDA,MD 20892
关键词
D O I
10.1212/WNL.42.1.194
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We describe the clinical and laboratory studies of an 11-year-old girl with prominent orofacial dyskinesia, dystonia, and progressive dementia. Investigations revealed hypoprebetalipoproteinemia, acanthocytosis, atypical retinitis pigmentosa, and evidence of iron deposition in the pallidal nuclei. Electroneuromyography and skin and sural nerve biopsies were normal. The "eye-of-the-tiger" sign, used to describe the pallidal nuclei in Hallervorden-Spatz syndrome, was present on T2-weighted MRIs (GE Signa, 1.5 T). Phase-contrast microscopy of whole blood showed 80 to 90% acanthocytes whose morphology was confirmed by electron microscopy. High-resolution lipoprotein electrophoresis demonstrated an absence of the pre-beta fraction. This case differs phenotypically from the previous reports of Hallervorden-Spatz disease with acanthocytosis by the presence of prominent orofacial dyskinesia and abnormal serum lipoproteins.
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页码:194 / 198
页数:5
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