Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration

Dykes et al. (1979) described 2 brothers, aged 62 and 66 years, who had this combination. Another brother, who died at age 58, had ichthyosis and a progressive neurologic disorder. Dysarthria and ataxia began after age 50. The ichthyosis was of distinctive type. Normal steroid sulfatase excluded the X-linked form (308100). X-linked inheritance of the syndrome is, of course, possible. The hepatosplenomegaly suggested a storage disease, but its nature was not evident.