Patriquin H B, Kaplan P, Kind H P, Giedion A
AJR Am J Roentgenol. 1977 Jul;129(1):37-43. doi: 10.2214/ajr.129.1.37.
Three unrelated southern Italian children manifested I-cell within the first month of life, but it was not recognized initially. Radiologic findings of osteopenia, subperiosteal new bone formation and resorption, and irregular metaphyses suggested systemic bone disease. Premature suture synostosis was evident at age 2-4 weeks. Review of the literature and experience with these cases establish these findings as valuable and specific clue to the diagnosis of I-cell disease. By 6-10 months of age, the clinical and radiologic features were similar to those in Hurler syndrome. Cardiorespiratory death occurred in two cases.
三名来自意大利南部且无血缘关系的儿童在出生后的第一个月内就出现了包涵体细胞病（I - 细胞病），但最初未被识别出来。骨质减少、骨膜下新骨形成与吸收以及干骺端不规则等放射学表现提示存在全身性骨病。在2 - 4周龄时可见早发性缝早闭。通过对文献的回顾以及这些病例的经验，确定这些发现是诊断I - 细胞病的有价值且特异性的线索。到6 - 10个月大时，临床和放射学特征与黏多糖贮积症I型（Hurler综合征）相似。两例患者发生了心肺功能衰竭死亡。
