Ophthalmoplegic neurolipidosis--storage cells in heterocygotes.
We describe two children with ophthalmoplegic neurolipidosis. Bone marrow specimens of the patients and their healthy relatives disclose typical storage cells. The literature is reviewed. The storage cells in healthy relatives are interpreted as a sign of heterocygosity.
D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology*; D002648:Child; D005260:Female; D005487:Foam Cells / Q000473:pathology; D006579:Heterozygote; D006644:Histiocytes / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008064:Lipidoses / Q000235:genetics* / Q000473:pathology; D008297:Male; D009886:Ophthalmoplegia / Q000235:genetics* / Q000473:pathology; D013577:Syndrome