Liu Hai-Tao, Song Jia, Zhou Fu-Chao, Liang Zhi-Hui, Zhang Qiu-Qi, Zhang Yue-Hui, Shao Jiang
Spine Center, Xin Hua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Front Surg. 2023 Jan 6;9:1059567. doi: 10.3389/fsurg.2022.1059567. eCollection 2022.
Mucopolysaccharidosis (MPS) is a progressive genetic disease that causes a deficiency in lysosomal enzymes, which play an important role in the degradation pathway of glycosaminoglycans. As a result of enzyme defects, mucopolysaccharides cannot be metabolized and thus accumulate. The cervical spine is one of the most commonly involved sites; thus, prompt surgical management before the onset of severe neurological deterioration is critical. However, because of the rarity of the disease, there is no standard treatment. In this review, we characterize the cervical spinal involvement in pediatric patients with MPS, describe the useful imaging technologies for diagnosis, and provide screening procedure for children with MPS. Surgical managements, including indications, surgical methods, possible difficulties, and solutions, are reviewed in detail.
黏多糖贮积症（MPS）是一种进行性遗传性疾病，可导致溶酶体酶缺乏，而溶酶体酶在糖胺聚糖的降解途径中起重要作用。由于酶缺陷，黏多糖无法代谢从而蓄积。颈椎是最常受累的部位之一；因此，在严重神经功能恶化发作前及时进行手术治疗至关重要。然而，由于该疾病罕见，尚无标准治疗方法。在本综述中，我们描述了MPS患儿颈椎受累的情况，介绍了有用的诊断成像技术，并提供了MPS患儿的筛查程序。详细回顾了手术治疗，包括手术指征、手术方法、可能的困难及解决方法。
