Peripheral nerve involvement in Fabry's disease

RS Kocen, PK Thomas - Archives of Neurology, 1970 - jamanetwork.com
ANGIOKERATOMA corporis diffusum or Fabry's disease is a genetically determined disorder
of lipid metabolism which displays a sex-linked recessive transmission. In hemizygous male
subjects, it produces the characteristic skin lesions, dilated conjunctival blood vessels, and
corneal opacities, together with renal failure, and cerebral and cardiac complications. In the
heterozygous female subjects, abnormalities are usually limited to the eyes, although the
abnormal lipid deposits have been dected in other organs. The abnormality responsible for …