Alghamdi Mohammed S, Reda Bashar, Albukhari Saeed N, Qoqandi Mahmood A
Orthopedic Surgery, King Abdulaziz University Hospital, Jeddah, SAU.
Medicine, King Abdulaziz University Hospital, Jeddah, SAU.
Cureus. 2022 Apr 13;14(4):e24116. doi: 10.7759/cureus.24116. eCollection 2022 Apr.
Hereditary sensory and autonomic neuropathies (HSANs) include hereditary disorders that cause congenital insensitivity to pain. Moreover, patients diagnosed with such disorders are known to have genetic mutations that alter their deep pain sensation, making them more prone to developing bone and joint complications such as repetitive fractures, joint swelling, and Charcot arthropathy. Neuropathic arthropathy (Charcot joint) is a rare and relatively poorly understood condition; it is suggested to be caused by autonomic dysfunction and repetitive microtrauma and characterized by instability and joint destruction. Diagnosing the idiopathic Charcot joint is challenging and is considered to be a diagnosis of exclusion. In addition, there are limited cases of Charcot knees managed by arthroplasty. Patients with Charcot knees are commonly characterized by profound bone loss, diffuse synovitis, and instability in the knee joint. In this article, we report the case of a 13-year-old patient with known gene mutation who presented with recurrent knee joint swelling episodes and instability without pain. She was diagnosed with Charcot knee joint and underwent right hinged total knee replacement. At one-year follow-up, she continued to have good knee stability and an overall functional gait. Our findings suggest that managing Charcot knee joint with total knee replacement in patients with HSAN may show improvement in terms of stability, swelling, and overall gait.
遗传性感觉和自主神经病变(HSANs)包括导致先天性痛觉缺失的遗传性疾病。此外,已知被诊断患有此类疾病的患者存在基因突变,这些突变会改变他们的深部痛觉,使他们更容易出现骨骼和关节并发症,如反复骨折、关节肿胀和夏科关节病。神经性关节病(夏科关节)是一种罕见且相对了解较少的病症;据认为它是由自主神经功能障碍和反复微创伤引起的,其特征是关节不稳定和破坏。诊断特发性夏科关节具有挑战性,被认为是一种排除性诊断。此外,通过关节成形术治疗夏科膝关节的病例有限。夏科膝关节患者的常见特征是严重骨质流失、弥漫性滑膜炎和膝关节不稳定。在本文中,我们报告了一例13岁已知基因突变的患者,该患者反复出现膝关节肿胀发作且膝关节不稳定但无疼痛。她被诊断为夏科膝关节,并接受了右铰链式全膝关节置换术。在一年的随访中,她的膝关节稳定性持续良好,整体步态功能正常。我们的研究结果表明,对于患有HSAN的患者,用全膝关节置换术治疗夏科膝关节在稳定性、肿胀和整体步态方面可能会有所改善。