[Refsum's disease: evolution 35 years after diagnosis].
Refsum's disease (Heredopathia atactica polyneuritiformis) is an autosomal recessive disease caused by a defective alpha oxidation of a C20 fatty acid: the phytanic acid. Deficiency of a peroxysomal enzyme called "Phytanoyl-Co-A alpha hydroxylase" leads to an accumulation of phytanic acid. The clinical picture include retinitis pigmentosa, peripheral neuropathy, ataxia and elevated cerebrospinal fluid protein concentration. Firstly described in 1946 by Sigvald Refsum, dietary treatment leads to an improvement of neurological symptoms but does not affect retinal changes. To our knowledge, there is no data in the literature on long term follow-up. A patient with Refsum's disease diagnosed in 1965 presented with facial paralysis. The phytanic acid concentration was low, CSF protein level was normal leading to diagnosis of Bell's palsy. This observation is of particular interest because after 35 years evolution of the disease, the only handicap was visual impairment, with no loss of muscle strength or sensory deficit.
Marcaud
V
V
Service de neurologie, Hôpital Saint-Joseph, 75014 Paris, France.
Defontaines
B
B
Jung
P
P
Degos
C F
CF
D000328:Adult; D001259:Ataxia / Q000209:etiology; D002386:Cataract / Q000209:etiology; D004032:Diet; D018450:Disease Progression; D004576:Electromyography; D005158:Facial Paralysis / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006899:Mixed Function Oxygenases / Q000172:deficiency; D010292:Paresthesia / Q000209:etiology; D020675:Peroxisomes / Q000201:enzymology; D010831:Phytanic Acid / Q000097:blood; D012035:Refsum Disease / Q000150:complications / Q000178:diet therapy / Q000235:genetics / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000209:etiology
D010831:Phytanic Acid; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human