Bruni L, Giammaria P, Tozzi M C, Camparcola D, Scopinaro F, Imperato C
Department of Paediatrics, University of Rome, La Sapienza, Italy.
Acta Paediatr Scand. 1990 Oct;79(10):994-8. doi: 10.1111/j.1651-2227.1990.tb11371.x.
Fibrodysplasia ossificans progressiva (FOP) is a severe, rare, autosomal dominant, ectopic ossifying condition, with primary involvement of the skeletal muscles associated with skeletal abnormalities. This report concerns an 11-year-old boy suffering from FOP, who presented significant modification of the musculoskeletal structure of the thorax and problems with articular movements. The patient showed progress after treatment with ethane-1-hydroxy-1,1-diphosphonate (EHDP). In fact, using a scintiscanner we were able to observe a significant improvement in symptoms and a recovery of some of the active sites of ossification.
进行性骨化性纤维发育不良(FOP)是一种严重、罕见的常染色体显性异位骨化病症,主要累及与骨骼异常相关的骨骼肌。本报告涉及一名患有FOP的11岁男孩,他的胸廓肌肉骨骼结构出现了显著改变,并且存在关节活动问题。该患者在接受乙烷-1-羟基-1,1-二膦酸盐(EHDP)治疗后病情有所进展。事实上,通过闪烁扫描仪,我们能够观察到症状有显著改善,并且一些骨化活跃部位也有所恢复。