Herman T E, McAlister W H
Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO, USA.
J Perinatol. 1996 Sep-Oct;16(5):400-2.
I-cell (mucolipidosis 2) is a rare, autosomal recessive neurodegenerative lysosomal storage disease. Neonatal skeletal radiographs are distinctive; a transient osteopathy that has features resembling hyperparathyroidism and rickets is present during the first year of life. The case of a 3-week old infant with I-cell disease is presented. Additional radiographic findings in this case include a butterfly vertebral body and dysharmonic epiphyseal ossification.
I型细胞病（黏脂贮积症II型）是一种罕见的常染色体隐性神经退行性溶酶体贮积病。新生儿骨骼X线片具有特征性表现；在出生后第一年出现一种具有类似甲状旁腺功能亢进和佝偻病特征的短暂性骨病。本文报告了一例3周龄I型细胞病婴儿的病例。该病例的其他X线表现包括蝴蝶椎和骨骺骨化不协调。
