A mucopolysaccharide storage disease with involvement of the renal glomerular epithelium

A young child with severe mental retardation, skeletal abnormalities and the phenotypic appearance typical of a mucopolysaccharide disorder was found to have a previously unrecognized form of mucopolysaccharide storage disease. Mucopolysaccharide was found to accumulate in perichondrium, coronary arteries, aorta and the glomerular epithelial cells of the kidney; the reticuloendothelial system remained free of mucopolysaccharide. Lipid accumulation was observed in peripheral neurons but not in central neurons. Skin fibroblast cultures accumulated ³⁵SO₄ to an extent intermediate between normal cell lines and those from patients with classic mucopolysaccharide storage disorders.