1. Sea-blue histiocyte and posterior column dysfunction: a familial disorder
- Author
-
Kenneth F. Swaiman, Bhuwan P. Garg, and Lawrence A. Lockman
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Adolescent ,medicine.medical_treatment ,Familial disorder ,Chromosome Disorders ,Absorption (skin) ,Lipidoses ,Lipofuscin ,Lipid peroxidation ,chemistry.chemical_compound ,Ceroid ,medicine ,Humans ,Vitamin E ,Histiocyte ,Genes, Dominant ,Chromosome Aberrations ,Chemistry ,Histocytochemistry ,Autosomal dominant trait ,Histiocytes ,Syndrome ,Posterior column ,Pedigree ,Female ,Neurology (clinical) ,Neurologic Findings - Abstract
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.
- Published
- 1975