Zhang Qiu-Qi, Wen-Ji Shangguan, Song Jia, Liang Zhi-Hui, Zhou Fu-Chao, Liu Hai-Tao, Shao Jiang, Zhang Yue-Hui
Spine Center, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
Baoshan Branch, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
J Orthop Surg Res. 2025 Jul 15;20(1):656. doi: 10.1186/s13018-025-06085-4.
Retrospective Study.
Type IVA mucopolysaccharidosis (MPS) is often associated with atlantoaxial deformity, and lacks a unified surgical treatment standard or classification system. We examined the value and clinical applicability of a new classification system for atlantoaxial deformities caused by type IVA MPS.
In this single-center retrospective clinical study, we analyzed 85 patients with type IVA MPS admitted between 2018 and 2022. Using the new classification system, the patients were classified as MPS A, B, C, and D according to pathological and imaging characteristics. Intra- and interobserver consistency tests were conducted by 10 independent observers. Subsequent clinical treatment was guided by the new classification system. Demographic, surgical, and clinical data were collected.
Thirty-nine patients with MPS A, fifteen with MPS B, seven with MPS C, and twenty-four with MPS D were included. The inter- and intra-observer k-values were 0.773 and 0.792, respectively. During the study period, seven patients with MPS A converted to MPS D, and five underwent subsequent surgery. Two patients with MPS B converted to MPS D and underwent surgery. Two patients with MPS C underwent atlantoaxial reduction and fusion fixation, and one underwent simple posterior arch resection of the atlas. Among 33 patients who underwent posterior atlantoaxial reduction and fusion fixation, 32 achieved bone fusion. Short-term complications comprised 1 case of mortality, 1 case of postoperative airway obstruction, 1 case of pain at the iliac bone graft donor site, and 2 cases of delayed wound healing. During the long-term follow-up period, no serious surgical complications have been observed to date, and the mADI value and ASIA scores of all patients improved to varying degrees.
The new classification system has a high reliability and clinical guidance value for diagnosis and treatment planning. The surgical plans adopted based on this diagnostic classification were effective and safe.
回顾性研究。
IVA型黏多糖贮积症（MPS）常伴有寰枢椎畸形，且缺乏统一的外科治疗标准或分类系统。我们研究了一种用于IVA型MPS所致寰枢椎畸形的新分类系统的价值及临床适用性。
在这项单中心回顾性临床研究中，我们分析了2018年至2022年间收治的85例IVA型MPS患者。采用新分类系统，根据病理和影像学特征将患者分为MPS A、B、C和D型。由10名独立观察者进行观察者间和观察者内一致性检验。随后以新分类系统指导临床治疗。收集人口统计学、手术及临床数据。
纳入MPS A型患者39例、MPS B型15例、MPS C型7例、MPS D型24例。观察者间和观察者内的k值分别为0.773和0.792。研究期间，7例MPS A型患者转变为MPS D型，其中5例随后接受了手术。2例MPS B型患者转变为MPS D型并接受了手术。2例MPS C型患者接受了寰枢椎复位融合内固定术，1例接受了单纯寰椎后弓切除术。在33例行寰枢椎后路复位融合内固定术的患者中，32例实现了骨融合。短期并发症包括1例死亡、1例术后气道梗阻、1例髂骨植骨供区疼痛和2例伤口愈合延迟。在长期随访期间，迄今为止未观察到严重的手术并发症，所有患者的mADI值和ASIA评分均有不同程度改善。
新分类系统对诊断和治疗规划具有较高的可靠性和临床指导价值。基于该诊断分类所采用的手术方案有效且安全。
