Clinical and biochemical expression of a unique mucopolysaccharidosis

Abstract

A boy who presented with painful joints leading to contractures was found to have a mucopolysaccharidosis not previously described. He had severe dysostosis multiplex of the long bones but nearly normal intellectual development and no involvement of the cornea. Lysosomal storage vacuoles were noted in dermal endothelial cells; these were similar to those seen in the genetic rnucopolysaccharidoses. Mucopolysacchariduria was not excessive in amount but it was distinctly abnormal in pattern and his excretion of dermatan sulfate resembled that found in the Hunter and Hurler syndromes. The activities of the lysosomal hydrolases in cultured fibroblasts were normal or increased. The degradation of accumulated 35S‐mucopolysaccharide in fibroblasts in culture was typical of a mucopolysaccharidosis. His mother accumulated 35S‐mucopolysaccharides in fibroblasts, suggesting an X‐linked inheritance of the disorder.