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Article
September 1975

I-Cell Disease: Report of Three Cases

Author Affiliations

From the departments of orthopaedic surgery (Drs. Terashima, Sugiura, and Nogami) and pediatrics (Drs. Tsuda and Isomura), Central Hospital and Institute for Developmental Research, Kasugai, Japan. Dr. Isomura is now with Aichigakuin University, Japan, and Dr. Sugiura is now with Nagoya University, Japan.

Am J Dis Child. 1975;129(9):1083-1090. doi:10.1001/archpedi.1975.02120460063016
Abstract

• 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)

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