Endocrinology Division and Osteoporosis Research and Treatment Center, UMass Memorial Health Care and University of Massachusetts Medical School, Worcester, MA, USA.
J Clin Densitom. 1999 Spring;2(1):45-53. doi: 10.1385/jcd:2:1:45.
Osteogenesis imperfecta and juvenile osteoporosis are two well-described syndromes of osteoporosis presenting in childhood. There are also several references in the radiology literature to calvarial doughnut lesions (CDLs), areas of radiolucency surrounded by a dense and well-defined area of sclerotic bone, either as an incidental finding or associated with childhood fracture. We have characterized the metabolic abnormalities in a 13-yr-old boy with CDLs and multiple fractures and followed him during his progression through puberty. The patient's paternal grandmother; father; and paternal aunt, uncle, and first cousin were similarly affected, and a mandibular lesion in the uncle was pathologically described as fibrous dysplasia. The subject's physical examination was significant for bony protuberances of the skull and normal hearing, sclearal hue, dentition, and joint flexibility. Radiographs revealed calvarial CDLs and osteopenia which was confirmed by bone mineral density (BMD) testing. Biochemical markers of bone formation and resorption were elevated compared to normal adult and a transiliac crest bone biopsy confirmed high-turnover osteoporosis. Over 6 yr, with no specific therapy, BMD gradually normalized, but the CDLs increased in size, bone turnover remained elevated by biochemical markers, and he continued to fracture. The subject's affected father and maternal grandmother had normal BMD and no history of adult fracture. CDLs with high-turnover osteoporosis should be considered in the differential diagnosis of pediatric osteoporosis. During puberty the BMD normalizes but the high-turnover state persists, and the propensity to fracture eventually decreases in older affected adults. The CDLs may be a variant of fibrous dysplasia, and further study is necessary in order to elucidate the stimulus for increased bone turnover and the familial nature of this syndrome.
成骨不全症和青少年骨质疏松症是两种在儿童期表现为骨质疏松症的综合征。在放射学文献中也有几个关于颅骨甜甜圈病变（CDLs）的参考文献，即放射性透明区域，周围环绕着致密且定义明确的硬化骨区域，要么作为偶然发现，要么与儿童骨折有关。我们对一名患有 CDLs 和多处骨折的 13 岁男孩的代谢异常进行了特征描述，并在他进入青春期的过程中对他进行了随访。患者的祖母；父亲；以及父亲的叔叔、姑姑和表亲也受到了类似的影响，叔叔的下颌病变在病理学上被描述为纤维结构不良。该患者的体格检查显示颅骨骨突和正常听力、巩膜色调、牙齿和关节灵活性。X 光片显示颅骨 CDLs 和骨质疏松症，骨矿物质密度（BMD）检测证实了这一点。与正常成年人相比，骨形成和吸收的生化标志物升高，髂嵴骨活检证实为高转换型骨质疏松症。在 6 年多的时间里，没有特定的治疗，BMD 逐渐正常化，但 CDLs 增大，骨转换仍通过生化标志物升高，他继续骨折。受影响的父亲和外祖母的骨密度正常，没有成人骨折史。对于儿科骨质疏松症的鉴别诊断，应考虑高转换型骨质疏松症伴 CDLs。在青春期，BMD 正常化，但高转换状态持续存在，并且在老年受影响的成年人中骨折的倾向最终降低。CDLs 可能是纤维结构不良的一种变体，需要进一步研究以阐明增加骨转换的刺激因素以及该综合征的家族性质。
