背景:功能轴和轴外减速和进行性关节痛,随后出现与肿胀相关的止痛步态,关节的僵硬和生理脊柱生物力学的丧失是该组患者的自然史。已对临床和放射学表型进行了仔细分析,以进一步了解其病因。
方法:7名患者(3名9-11岁儿童和1名17岁儿童)。观察并检查了三名年龄分别为25、30、33和40岁的成年人。儿科组患者最初被诊断为肌病,后来在其他机构中被诊断为幼年类风湿性关节炎。我们部门收集了临床和影像学文件,然后是突变筛查,通过WISP3基因的双向测序进行。
结果:临床和放射学表型研究证实了进行性假性类风湿软骨发育不良的诊断。一系列异常,例如早期老年脊柱肥厚症(Forestier疾病),髋部骨关节炎表现为进行性股骨骨phy发育不良和髋内翻相关的髋关节间隙逐渐缩小和不规则。功能缺失纯合突变(c.667T>G,p.Cys223Gly)和(c.170C>A,在我们的患者中鉴定了WISP3基因中的p.Ser57*)。
结论:通过剧烈的肌病和风湿病检查不能明确诊断。详细的临床检查和骨骼调查,然后是基因型确认,是我们排除成年患者中幼年类风湿关节炎和类风湿多关节炎的误诊的基本指针。我们希望强调,临床/放射学表型是建立明确诊断并指导遗传学家正确基因型的基线工具。要点•关节疼痛和行走/爬楼梯的困难是儿童早期遇到的特征。在这一点上可以做出幼年类风湿性关节炎的错误诊断。•假阳性样肌肉萎缩类似肌病导致随后剧烈的麻烦调查。•与前端板骨化缺陷相关的椎体平坦化是进行性假性血管瘤样软骨发育不良的特征性特征。•接头膨胀,通常伴随着阑尾骨骼系统的关节末端变窄,显示了一个清晰的放射学表型的假性类风湿软骨发育不良。
BACKGROUND: Axial and extra-axial deceleration in function and progressive joint pain with subsequent development of antalgic gait associated with swellings, and stiffness of the joints with loss of the physiological spine biomechanics were the natural history in this group of patients. Clinical and radiological phenotypes have been analysed carefully to further understand the aetiology behind.
METHODS: Seven patients (three children around the age of 9-11 and one child of 17 years old). Three adults aging 25, 30, 33 and 40 years old were seen and examined. The paediatric group of patients were initially diagnosed with myopathy followed later by juvenile rheumatoid arthritis in other institutions. Clinical and imaging documentation were collected in our departments, followed by mutation screening, was carried out by bidirectional sequencing of the WISP3 gene.
RESULTS: Clinical and radiological phenotypic studies confirmed the diagnosis of progressive pseudorheumatoid chondrodysplasia. A constellation of abnormalities such as early senile hyperostosis of the spine (Forestier disease), osteoarthritis of the hips showed progressive diminution and irregularities of the hip joint spaces associated with progressive capital femoral epiphyseal dysplasia and coxa vara have been encountered. Loss-of-function homozygous mutations (c.667T>G, p.Cys223Gly) and (c.170C>A, p.Ser57*) in the WISP3 gene were identified in our patients.
CONCLUSIONS: The definite diagnosis was not defined via vigorous myopathic and rheumatologic investigations. Detailed clinical examination and skeletal survey, followed by genotypic confirmation, were our fundamental pointers to rule out the false diagnosis of juvenile rheumatoid arthritis and rheumatoid polyarthritis in the adult group of patients. We wish to stress that the clinical/radiological phenotype is the baseline tool to establish a definite diagnosis and to guide the geneticist toward proper genotype.Key Points•Joint pain and difficulties in walking/climbing the stairs are characteristic features encountered in early childhood. False diagnosis of juvenile rheumatoid arthritis can be made at this point.•False positive-like muscular wasting resembling myopathy results in ensuing vigorous troublesome investigations.•Flattened vertebral bodies associated with defective ossification of the anterior end plates are characteristic features of progressive pseudorheumatoid chondrodysplasia.•Joint expansions, which are usually accompanied by narrowing of the articular ends of the appendicular skeletal system, show a clear radiological phenotype of pseudorheumatoid chondrodysplasia.