Sea-blue histiocyte and posterior column dysfunction: a familial disorder.
This is a report of a new familial neurologic disorder characterized by ceroid-lipofuscin storage, sea-blue histiocytes, and associated neurologic findings. Neurologic manifestations in the family members examined were varied, but posterior column involvement was the most common finding. The presence of sea-blue histiocytes was genetically determined by an autosomal dominant trait. Vitamin E blood concentrations were decreased in the absence of absorption difficulties in two sisters who were most seriously affected. The relationship of ceroid-lipofuscin, lipid peroxidation, and vitamin E is discussed.
D000293:Adolescent; D000328:Adult; D002566:Ceroid / Q000378:metabolism; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D006644:Histiocytes / Q000378:metabolism; D006651:Histocytochemistry; D006801:Humans; D008064:Lipidoses / Q000097:blood / Q000235:genetics*; D008062:Lipofuscin / Q000378:metabolism; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014810:Vitamin E / Q000097:blood
D002566:Ceroid; D008062:Lipofuscin; D014810:Vitamin E