Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.
A sibship is described in which at least two brothers suffer from a unique disorder characterised by ichthyosis, hepatosplenomegaly, and late onset cerebellar ataxia. The clinical features and investigations are described. No metabolic abnormality has been found so far.
D000368:Aged; D002524:Cerebellar Ataxia / Q000235:genetics*; D006529:Hepatomegaly / Q000235:genetics*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D013163:Splenomegaly / Q000235:genetics*; D013577:Syndrome