A case of Refsum disease with atypical clinical picture in family members

R. Marano, P. Soliveri, B. Garavaglia, A. Antonelli, F. Girotti

Research output: Contribution to journalArticlepeer-review

Abstract

A typical case of Refsum disease with high phytanic acid plasma levels is described. Two siblings showed some features but not the entire clinical spectrum of the disease. The unusual condition of the patient's father, a presumed heterozygotic carrier with characteristic bone abnormalities and a delayed onset retinopathy, is discussed.

Original languageEnglish
Pages (from-to)451-454
Number of pages4
JournalItalian Journal of Neurological Sciences
Volume10
Issue number4
DOIs
Publication statusPublished - Aug 1989

Keywords

  • phytanic acid
  • phytanic acid α-hydroxylase
  • Refsum disease

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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