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

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. Viene presentato un caso tipico di malattia di Refsum con valori elevati di acido fitanico nel siero. Due collaterali mostravano segni parziali della malattia. È segnalata la singolare condizione del padre, presumibile portatore eterozigote, che presentava anomalie ossee ed un esordio tardivo della retinopatia.

DOI: 10.1007/BF02334952

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Cite this paper

@article{Marano1989ACO, title={A case of Refsum disease with atypical clinical picture in family members}, author={Renato Marano and Paola Soliveri and Barbara Garavaglia and Alessandro Antonelli and Dr. F. Girotti}, journal={The Italian Journal of Neurological Sciences}, year={1989}, volume={10}, pages={451-454} }