Tamés I, Gracía A, Aladro A, Vieito X, González F A, Chabas A
Hospital de Cabueñes de Gijón, Sección de Neonatología.
An Esp Pediatr. 1987 Oct;27(4):297-302.
Clinical and biochemical findings of two patients with neonatal mucolipidosis II are presented. Characteristic coarse facial features, shortness of stature, psychomotor retardation and vacuolated lymphocytes were observed in both cases. However, in one case symptoms presentation was earlier and course of the disease was markedly more severe, with death occurring at the age of 3 months. Biochemically similar increase of serum multiple lysosomal enzymes and decrease of fibroblast activities was demonstrated in both patients. Authors have found elevations of some acid hydrolases in sera from parents (obligate heterozygotes) of both patients and in individuals from two more families also obligated carries.
本文介绍了两名患有新生儿黏脂贮积症II型患者的临床和生化检查结果。在这两个病例中均观察到典型的粗糙面容、身材矮小、精神运动发育迟缓以及淋巴细胞空泡化。然而，其中一例症状出现更早，疾病进程明显更严重，于3个月龄时死亡。两名患者均显示出血清多种溶酶体酶生化水平类似升高以及成纤维细胞活性降低。作者发现，两名患者的父母（必然杂合子）以及另外两个家族的必然携带者个体的血清中某些酸性水解酶水平升高。
