Whelan D T, Chang P L, Cockshott P W
Clin Genet. 1983 Aug;24(2):90-6. doi: 10.1111/j.1399-0004.1983.tb02218.x.
We report on the clinical, radiological and biochemical features of mucolipidosis II in three infants. One with subtle phenotypical findings died at 2 weeks of age without a specific diagnosis. A sibling who died at 2 years of age and another infant, presently 3.5 years of age manifest all the characteristic features of mucolipidosis II: extreme psychomotor delay and failure to thrive, coarse facial features, gingival hyperplasia, joint stiffness, inguinal hernia and skin induration. The corneae were normal and there was no mucopolysacchariduria. Radiologically, these infants show changes which are characteristic but not specific for mucolipidosis II. Cytologically, skin fibroblasts from these patients demonstrate the lysosomal inclusions typical of I-Cell Disease. Biochemically, cultured skin fibroblasts show deficient activity of arylsulphatase A and B and hexosaminidase A and B. These acid hydrolases were increased markedly in plasma and in the culture medium of the skin fibroblasts.
我们报告了三名患有黏脂贮积症II型婴儿的临床、放射学和生化特征。其中一名有轻微表型表现的婴儿在2周龄时死亡，未得到明确诊断。一名在2岁时死亡的同胞以及另一名目前3.5岁的婴儿表现出黏脂贮积症II型的所有特征：严重的精神运动发育迟缓、生长发育不良、面容粗糙、牙龈增生、关节僵硬、腹股沟疝和皮肤硬结。角膜正常，且无黏多糖尿症。放射学检查显示，这些婴儿呈现出黏脂贮积症II型的典型但非特异性变化。细胞学检查发现，这些患者的皮肤成纤维细胞显示出I型细胞病典型的溶酶体包涵体。生化检查方面，培养的皮肤成纤维细胞显示芳基硫酸酯酶A和B以及己糖胺酶A和B的活性不足。这些酸性水解酶在血浆和皮肤成纤维细胞的培养基中显著增加。
