Cipolloni C, Boldrini A, Donti E, Maiorana A, Coppa G V
Helv Paediatr Acta. 1980 Mar;35(1):85-95.
Clinical, radiological and biochemical findings are described in a male newborn with mucolipidosis II (I-cell disease). At birth a characteristic somatic picture, skeletal anomalies, vacuolated lymphocytes in peripheral blood, typical signs of a metabolic disorder, were present. The daily excretion of urinary mucopolysaccharides was within normal range, nevertheless an anomalous pattern consisting in a high amount of dermatan sulfate was found. The excretion of urinary sialyl oligosaccharidases was increased. Cultured skin fibroblasts showed the typical "I-cell" phenomenon. The activities of serveral lysosomal enzymes were strikingly increased in serum, but not in leucocytes. No significant variations of acid hydrolase activities were found in the patient's relatives.
本文描述了一名患有黏脂贮积症II型（I-细胞病）的男性新生儿的临床、放射学和生化检查结果。出生时，患儿出现了典型的躯体表现、骨骼异常、外周血中空泡化淋巴细胞以及代谢紊乱的典型体征。尿黏多糖的每日排泄量在正常范围内，但发现了一种异常模式，即硫酸皮肤素含量较高。尿唾液酸寡糖酶的排泄量增加。培养的皮肤成纤维细胞表现出典型的“I-细胞”现象。几种溶酶体酶的活性在血清中显著升高，但在白细胞中未升高。在患者亲属中未发现酸性水解酶活性有明显变化。
