原发性高磷酸酶血症患儿骨骼X线异常表现

目的 观察原发性高磷酸酶血症患儿骨骼X线异常表现。方法 分析21例原发性高磷酸酶血症患儿 骨骼异常X线表现。结果 双侧长管状骨骨干增粗、对称性弯曲（21/21,100%）,皮质增厚分层（14/21,66.67%）,骨干骨皮质变薄、骨质吸收并髓腔增宽呈多囊状（7/21,33.33%）,骨密度增高（17/21,80.95%）或减低（4/21,19.05%）,并见多发骨折（5/21,23.81%）。掌、指骨（13/13,100%）和跖、趾骨呈“长方框”状（12/12,100%）,掌、指骨（5/13,38.46%）,跖、趾骨（3/12,25.00%）梭形增粗。颅骨见多发圆形骨质吸收区（12/15,80.00%）,颅板增厚呈磨玻璃样（13/15,86.67%）,异常增大（11/13,84.62%）,颅底骨增厚硬化（13/13,100%）及牙槽骨骨硬板骨质疏松或消失（8/13,61.54%）。胸腰椎塌陷变扁 （18/18,100%）或呈"夹心椎"（16/18,88.89%）;骨盆骨质软化、髋臼内陷、呈小骨盆腔变形（5/5,100%）;锁骨、肩胛骨增粗、膨大（7/12,58.33%）,肋骨增宽、皮质与髓腔界限不清（8/12,66.67%）,肋间隙变窄（5/12,41.67%）,可见肋骨骨折（1/12,8.33%）。结论 高磷酸酶血症患儿骨骼异常X线表现有一定特征。

Abnormal radiographic findings of skeletons in children with idiopathic hyperphosphatasia

Objective To explore the abnormal radiographic findings of skeletons in children with idiopathic hyperphosphatasia. Methods Imaging data of 21 children with idiopathic hyperphosphatasia were analyzed, and the features of skeletons in X-ray films were observed. Results Long bones showed diaphysis thickened and bended symmetrically (21/21, 100%), the cortex thickened with stratification (14/21, 66.67%) or thinned with bone absorption and medullary cavity broadening as multiple cystic (7/21, 33.33%), the bone density enhanced (17/21, 80.95%) or reduced (4/21, 19.05%). In addition, multiple fractures of long bones occurred in 5 cases (5/21, 23.81%). The short bones showed "frame-like" sign in metacarpus/hand phalanx (13/13, 100%) and metatarsus/foot phalanx (12/12, 100%), fusiform thickening in metacarpus/hand phalanx (5/13, 38.46%) and metatarsus/foot phalanx (3/12, 25.00%). The skulls displayed multiple bone absorption areas (12/15, 80.00%) and enlarged abnormally (11/13, 84.62%), the skull plates thickened as ground-glass (13/15, 86.67%), the cranial basis thickened and hardened (13/13, 100%), and the alveolar bone plate became osteoporotic or disappeared (8/13, 61.54%). Thoracic and the lumbar vertebras collapsed (18/18, 100%) or showed as rugger-jersey spine (16/18, 88.89%). Osteomalacia of the pelvis, invagination of the acetabulum and deformation of pelvic canal were observed (5/5, 100%). The clavicle and the scapula thickened and enlarged (7/12, 58.33%), the ribs broadened with unclear boundary of cortex and medullary cavity (8/12, 66.67%), and the intercostal space was narrowed (5/12, 41.67%). Rib fraction occurred in 1 case (1/12, 8.33%). Conclusion The radiographic findings of tubular bones, skull and spine have certain characteristics in children with idiopathic hyperphosphatasia.