Refsum's syndrome: report of three cases.
نویسندگان
چکیده
The case-reports of three cases of Refsum's syndrome are presented, and the underlying metabolic abnormality discussed. The effect of treatment with a low-phytanic acid diet in one case is described.
منابع مشابه
Natural history of Refsum's syndrome in a Gloucestershire family.
Thirty-nine cases of Refsum's syndrome (Refsum, 1946) or heredopathia atactica polyneuritiformis have now been reported (Carrell et al., 1966). The neurological features-namely, a mixed sensory and motor peripheral neuropathy, atypical retinitis pigmentosa with night blindness and constricted visual fields, cerebellar ataxia, and nerve deafness-are well attested and have been recently reviewed ...
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This paper describes a diabetic child showing most of the features of a condition described by Refsum (Refsum, 1945, 1946a and 1946b, 1948, 1952; Refsum, Salomonsen and Skatvedt, 1949) under the name of heredopathia atactica polyneuritiformis. The malady is thought to be a recessive condition and is usually referred to as Refsum's syndrome. Only six other cases have so far been reported (Reese ...
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عنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 33 6 شماره
صفحات -
تاریخ انتشار 1970