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Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome)

From the Developmental and Metabolic Neurology Branch (Drs. Higgins, Patterson, Brady, Pentchev, and Barton), National Institute of Neurological Disorders and Stroke, and Clinical Pathology Department (Dr. Papadopoulos), Warren G. Magnuson Clinical Center, National Institutes of Health, Bethesda, MD.

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 HallervordenSpatz 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.

Address correspondence and reprint requests to Dr. Joseph J. Higgins, Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 3D03, Bethesda, MD 20892.

Presented in part at the 43rd annual meeting of the American Academy of Neurology, Boston, MA, April 1991.

Received March 26, 1991. Accepted for publication in final form June 10, 1991.

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