A case of Refsum disease with atypical clinical picture in family members.
作者信息
Marano R, Soliveri P, Garavaglia B, Antonelli A, Girotti F
机构信息
Istituto Nazionale Neurologico C. Besta, Milano.
出版信息
Ital J Neurol Sci. 1989 Aug;10(4):451-4. doi: 10.1007/BF02334952.
PMID:2477346
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.
摘要
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