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Roman S. Kocen, MB, MRCP; P. K. Thomas, MD, FRCP

Arch Neurol. 1970;22(1):81-88.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

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 the disorder has been shown by Brady et al¹ to be a deficiency of ceramide trihexosidase, which results in the accumulation of ceramide trihexoside in various tissues.^2,3

The clinical manifestations of the disease^4,5 are thought to be due either to direct involvement of various tissues by lipid deposits or to arise secondarily to vascular disease from involvement of small arteries and arterioles. Frequently, an organ such as the heart, kidney, or brain may be . . . [Full Text PDF of this Article]

Author Affiliations
London

From the Regional Neurological Unit, Brook General Hospital (Dr. Kocen); the Department of Neurology, Royal Free Hospital and Royal National Orthopaedic Hospital (Dr. Thomas); and the Institute of Neurology, London.

Footnotes
Submitted for publication July 12, 1969; accepted Aug 7.

Reprint requests to Institute of Neurology, Queen Square, London, WC1 (Dr. Kocen).

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