A case of Refsum disease with atypical clinical picture in family members.
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.
Marano
R
R
Istituto Nazionale Neurologico C. Besta, Milano.
Soliveri
P
P
Garavaglia
B
B
Antonelli
A
A
Girotti
F
F
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004537:Eicosanoic Acids / Q000097:blood*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010831:Phytanic Acid / Q000097:blood*; D012035:Refsum Disease / Q000097:blood / Q000235:genetics* / Q000503:physiopathology
D004537:Eicosanoic Acids; D010831:Phytanic Acid