Tiwari Utkarsh, Menon P Gopinath, Chockalingam Sitsabesan
Department of Orthopedic Surgery, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.
J Orthop Case Rep. 2024 Dec;14(12):159-163. doi: 10.13107/jocr.2024.v14.i12.5058.
Progressive pseudorheumatoid dysplasia is an autosomal recessively inherited rare disorder with features of growth retardation, multiple joint deformities, and intra-articular loose bodies.
This case study is about a 34-year-old man who presented to us following trauma to his right leg. On general assessment, he was short statured with multiple deformities of both upper and lower limbs with local signs suggestive of proximal tibial fracture over his right tibia. Blood values indicated low Vitamin D levels with normal serum calcium and alkaline phosphatase, inclusive of the inflammatory markers. X-rays showed platyspondyly, decreased bone stock, and significant joint space narrowing in addition to the displaced proximal tibial meta-diaphyseal fracture. He was managed surgically and went on to have an uneventful post-operative period with fracture healing but with a need for further intervention in the future to address his associated secondary knee arthritis.
To share the morphometrics and presentation of this rare disease. And to highlight the role of psychological and rehabilitative therapy in improving the disease outcomes.
进行性假类风湿性发育不良是一种常染色体隐性遗传的罕见疾病,具有生长发育迟缓、多关节畸形和关节内游离体等特征。
本病例研究的是一名34岁男性,他因右腿受伤前来就诊。综合评估显示,他身材矮小,上下肢多处畸形,右胫骨有提示近端胫骨骨折的局部体征。血液检查结果显示维生素D水平低,血清钙和碱性磷酸酶正常,包括炎症标志物。X线片显示椎体扁平、骨量减少、关节间隙明显变窄,此外还有移位的近端胫骨干骺端骨折。他接受了手术治疗,术后恢复顺利,骨折愈合,但未来需要进一步干预以解决其相关的继发性膝关节炎问题。
分享这种罕见疾病的形态学特征和临床表现。并强调心理和康复治疗在改善疾病预后方面的作用。