PDF(Pubmed)
Abstract：
Multiple epiphyseal dysplasia (MED) is a congenital disease causing epiphyseal dysplasia in long bones. Herein, we report a case of a middle-aged man with bilateral knee joint locking symptoms who was diagnosed with multiple epiphyseal dysplasia caused by Matrilin-3 (MATN3) pathogenic variants and was successfully treated with arthroscopic loose body removal. A 48-year-old man has had bilateral knee pain since his twenties and underwent loose body removal of both knees in his thirties. He visited our hospital for worsening locking symptoms in both knees. Twenty years ago, his son had been diagnosed with suspected multiple epiphyseal dysplasia. Genetic and imaging testing confirmed his diagnosis of multiple epiphyseal dysplasia due to Matrilin-3 pathogenic variants. Arthroscopic loose body removal was performed, and the locking symptoms disappeared after surgery. Arthroscopic loose body removal was effective for the locking symptoms in a mild adult case of multiple epiphyseal dysplasias caused by Matrilin-3 pathogenic variants.
摘要：
多发性骨phy发育不良（MED）是一种先天性疾病，可引起长骨骨phy发育不良。在这里，我们报告1例患有双侧膝关节锁定症状的中年男子,他被诊断为由Matrilin-3(MATN3)致病变种引起的多发性骨骨发育不良,并通过关节镜下松体摘除成功治疗.一名48岁的男子自二十多岁以来一直患有双侧膝盖疼痛，并在三十多岁时接受了双膝松弛的身体切除。他因双膝锁定症状恶化而到我们医院就诊。二十年前,他的儿子被诊断出怀疑患有多发性骨phy发育不良。遗传和影像学检查证实了他因Matrilin-3致病变异而诊断为多发性骨phy发育不良。进行关节镜下松体切除，手术后锁定症状消失了.在由Matrilin-3致病变种引起的轻度成人多发性骨phy发育不全的病例中，关节镜松体切除对锁定症状有效。
