I-cell disease. Report of three cases
Y. Terashima, K. Tsuda, S. Isomura, Y. Sugiura and H. Nogami
Clinical, radiological, histochemical, ultrastructural, and biochemical
studies were conducted on three cases of I-cell disease. I-cell disease can
be readily distinguished from Hurler syndrome (mucopolysaccharidosis I) by
the presence of hypertrophic gums, vacuolated lymphocytes in peripheral
blood, and a normal level of urinary mucopolysaccharides. Accumulation of
proteoglycans was more prominent in the inclusion bodies of I-cell
chondrocytes in comparison to cultured fibroblasts, which contained a large
amount of glycolipids and a small amount of proteoglycans. An autosomal
recessive mode of inheritance was suggested in two of the cases.
