Cerebrotendinous xanthomatosis. A case report.
Cerebrotendinous xanthomatosis is a rare hereditary disease, which manifests with tendinous xanthomas, cataracts, dementia and nervous system involvement. The first southern African black patient with this disorder is reported and biochemical abnormalities and treatment are briefly discussed.
Shamley
D J
DJ
Department of Neurology, Baragwanath Hospital, Johannesburg.
Heckmann
J M
JM
Mendelsohn
D
D
Saffer
S D
SD
D000125:Achilles Tendon / Q000473:pathology; D044383:Black People; D001902:Botswana; D001921:Brain / Q000473:pathology; D005260:Female; D005385:Fingers / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D013710:Tendons / Q000473:pathology; D014034:Toes / Q000473:pathology; D014973:Xanthomatosis / Q000473:pathology