Nevsímalová S, Elleder M, Smíd F, Zemánková M
J Inherit Metab Dis. 1984;7(1):38-40. doi: 10.1007/BF01805620.
Multiple sulphatase deficiency was studied in 3 siblings--one pair of monozygotic twins and their sister. The children's psychomotor development was arrested at the age of 18 to 24 months, and the hypotonic syndrome combined with signs of spasticity appeared. There was marked hepatosplenomegaly, conspicuously dry scaly skin with the decortication syndrome developing and persisting in the presence of pronounced cachexia. Also present were numerous X-ray abnormalities, metachromatically staining granules in the urine, and Alder- Reilly 's bodies in the blood leukocytes and in specimens of bone marrow. Liver, skin and muscle biopsies performed simultaneously revealed accumulations of water-soluble mucopolysaccharides and deposits of sulphatides in the two twins. Enzyme assays demonstrated arylsulphatase A and B deficiency. The diagnosis was subsequently confirmed at all the three siblings' postmortem examinations.
对3名兄弟姐妹——一对同卵双胞胎及其妹妹进行了多种硫酸酯酶缺乏症的研究。患儿的精神运动发育在18至24个月时停滞，出现了低渗综合征并伴有痉挛迹象。有明显的肝脾肿大，皮肤显著干燥、有鳞屑，出现去皮综合征且在明显恶病质情况下持续存在。还存在许多X线异常、尿液中异染性染色颗粒以及血液白细胞和骨髓标本中的阿尔德 - 赖利小体。同时进行的肝脏、皮肤和肌肉活检显示，两名双胞胎体内有水溶性粘多糖积聚和硫脂沉积。酶分析表明芳基硫酸酯酶A和B缺乏。随后在所有三名兄弟姐妹的尸检中证实了诊断。
