Radiology, Auckland City Hospital, Auckland, New Zealand.
Nuclear Medicine, Auckland City Hospital, Auckland, New Zealand.
J Bone Miner Res. 2019 May;34(5):875-882. doi: 10.1002/jbmr.3670. Epub 2019 Feb 19.
Camurati-Engelmann disease (OMIM 31300) is a rare cranio-tubular bone dysplasia characterized by osteosclerosis of the long bones and skull caused by dominantly-inherited mutations in the transforming growth factor beta 1 (TGFB1) gene. A wide variation in phenotype has been recognized, even within families carrying the same mutation. In addition, aspects of the natural history of the disorder, in particular whether it is always progressive or can remit spontaneously, remain uncertain. In a large kindred carrying a TGFB1 gene mutation (c.653G > A; p.R218H) we have attempted to clarify the extent of phenotypic variability and the natural history of the disease through detailed individual histories of symptoms, and skeletal imaging by both radiography and scintigraphy. Only one subject had the classical childhood onset with bone pain in the legs and gait disturbance. Eight subjects reported the onset of leg pain in their teenage years that, by their early 20s, had either resolved or persisted at a low level. Two of these eight later developed cranial nerve palsies. There was a wide variation in the radiographic appearance in adults, but disease extent and activity in long bones, as assessed by scintigraphy, was inversely correlated with age (p < 0.025). In younger subjects the radiographic and scintigraphic appearances were concordant, but in older subjects the scintigram could be quiescent despite florid radiographic changes. Sequential scintigrams in two subjects showed reduced activity in the later scan. One subject had suffered meningoencephalitis in early childhood that resulted in paresis of one arm. The affected arm showed markedly less disease involvement, implicating mechanical or growth factors in its etiology. Our data suggest that the natural history of Camurati-Engelmann disease can be benign, and that disease activity commonly attenuates in adulthood. Severe cases of childhood onset and/or with cranial nerve involvement, may occur only in a minority of mutation carriers. © 2019 American Society for Bone and Mineral Research.
卡姆鲁蒂-恩格尔曼病（OMIM 31300）是一种罕见的颅管状骨发育不良，其特征为长骨和颅骨的骨硬化，由转化生长因子β 1（TGFB1）基因的显性遗传突变引起。即使在携带相同突变的家族中，也已认识到表型存在广泛的变异性。此外，该疾病的自然史的各个方面，特别是它是否总是进展性的或是否可以自发缓解，仍不确定。在一个携带 TGFB1 基因突变（c.653G> A；p.R218H）的大家族中，我们试图通过详细的症状个体史和放射性照相术和闪烁照相术进行的骨骼成像，来阐明表型变异性的程度和疾病的自然史。只有一名患者具有典型的儿童发病，表现为腿部骨痛和步态障碍。八名患者报告在青少年时期开始腿部疼痛，到 20 岁出头时，要么已经缓解，要么仍处于低水平。其中两名后来发展为颅神经麻痹。成年人的放射照相表现差异很大，但通过闪烁照相术评估的长骨疾病范围和活动性与年龄呈负相关（p<0.025）。在年轻患者中，放射照相和闪烁照相表现一致，但在老年患者中，尽管放射照相变化明显，但闪烁扫描可能处于静止状态。两名患者的连续闪烁扫描显示后期扫描的活性降低。一名患者在幼儿期患有脑膜炎脑炎，导致一只手臂瘫痪。受影响的手臂显示出明显较少的疾病受累，这暗示其病因涉及机械或生长因素。我们的数据表明，卡姆鲁蒂-恩格尔曼病的自然史可能是良性的，并且疾病活动通常在成年后会减弱。少数突变携带者中可能仅发生儿童起病和/或颅神经受累的严重病例。©2019 美国骨骼与矿物质研究协会。
