• 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.
(Am J Dis Child 129:1083-1090, 1975)
Terashima Y, Tsuda K, Isomura S, Sugiura Y, Nogami H. I-Cell Disease: Report of Three Cases. Am J Dis Child. 1975;129(9):1083–1090. doi:10.1001/archpedi.1975.02120460063016
Pediatrics in JAMA: Read the Latest
Customize your JAMA Network experience by selecting one or more topics from the list below.