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

Joseph J. Higgins, M. C. Patterson, N. M. Papadopoulos, R. O. Brady, P. G. Pentchev, N. W. Barton

Research output: Contribution to journalArticlepeer-review

51 Scopus citations

Abstract

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 ofiron 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.

Original languageEnglish (US)
Pages (from-to)194-198
Number of pages5
JournalNeurology
Volume42
Issue number1
DOIs
StatePublished - Jan 1992

ASJC Scopus subject areas

  • Clinical Neurology

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