Terashima Y, Tsuda K, Isomura S, Sugiura Y, Nogami H
Am J Dis Child. 1975 Sep;129(9):1083-90.
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.
对三例I型细胞病患者进行了临床、放射学、组织化学、超微结构和生物化学研究。I型细胞病可通过肥厚性牙龈、外周血中空泡化淋巴细胞以及尿黏多糖水平正常等表现，与Hurler综合征（黏多糖贮积症I型）轻易区分开来。与含有大量糖脂和少量蛋白聚糖的培养成纤维细胞相比，蛋白聚糖在I型细胞病软骨细胞的包涵体中积累更为显著。其中两例提示为常染色体隐性遗传模式。
