黏多糖贮积症的神经外科表现与处理：一项系统综述。
完整摘要 · 中文译文
黏多糖贮积症（MPS）代表一组罕见的遗传性溶酶体贮积病，其神经外科问题在儿童期和青少年期出现。然而，文献对这些特定结局的报道仍较为零散。相应地，我们试图为神经外科医生综合一份关于MPS的入门指南，总结当代文献中报道的神经外科表现和管理。按照PRISMA指南对文献进行了系统检索。电子数据库检索自建库至2026年6月。纳入报告任何MPS亚型患者脑积水、颅颈交界区（CVJ）异常、脊髓压迫、脊髓病、脊柱畸形、神经外科干预或相关结局的研究，并汇总其发现。共纳入78项研究，包含983例患者，其中女性占37.8%，平均年龄12.4岁。MPS I（34%）、MPS II（31%）和MPS IV（26%）占所报告亚型的大多数。共有819例患者（83%）表现出神经外科表现。脊柱畸形（29%）和脑积水（28%）是最常报告的表现，其次是脊髓压迫/脊髓病（22%）和CVJ病变（20%）。观察到明显的亚型特异性模式：脊柱畸形以MPS I为主（24%），脑积水以MPS II为主（20%），CVJ不稳/压迫以MPS IV为主（12%）。总体而言，脑积水在74%的病例中接受了手术治疗，而CVJ和脊髓病变在 分别有41%和23%的病例。研究中未接受过任何先前全身治疗的患者，与已接受治疗的患者相比，报告了更高的手术干预率。超过五分之四的MPS患者出现神经外科表现，并且在所有类型的MPS中均具有临床意义。脑积水、CVJ不稳定、脊髓压迫和进行性脊柱畸形代表了主要的手术并发症。早期识别、结构化影像监测和及时神经外科干预是MPS管理的重要组成部分。
完整摘要 · 英文原文
Mucopolysaccharidoses (MPS) represent a group of rare inherited lysosomal storage disorders, of which neurosurgical issues arise during childhood and adolescence. The literature however remains fragmented in terms of these specific outcomes. Correspondingly, we sought to synthesize a primer for neurosurgeons in regard to MPS, summarizing the neurosurgical manifestations and management reported in the contemporary literature. A systematic interrogation of the literature was performed according to PRISMA guidelines. Electronic databases were searched from inception through June 2026. Studies reporting hydrocephalus, craniovertebral junction (CVJ) abnormalities, spinal cord compression, myelopathy, spinal deformity, neurosurgical interventions, or related outcomes in patients with any MPS subtype were included and their findings aggregated. Seventy-eight studies comprising 983 patients with 37.8% females and mean age of 12.4 years were included. MPS I (34%), MPS II (31%), and MPS IV (26%) represented the majority of reported subtypes. A total of 819 patients (83%) exhibited neurosurgical manifestations. Spinal deformity (29%) and hydrocephalus (28%) were the most frequently reported manifestations, followed by spinal cord compression/myelopathy (22%) and CVJ pathology (20%). Distinct subtype-specific patterns were observed: spinal deformity predominated in MPS I (24%), hydrocephalus in MPS II (20%), and CVJ instability/compression in MPS IV (12%). Overall, hydrocephalus was surgically treated in 74% of instances, whereas CVJ and spinal cord pathology were surgically treated in 41% and 23% of instances respectively. Patients in studies who were not treated by any prior systemic therapy reported higher rates of surgical intervention compared to those who had received treatment. Neurosurgical manifestations occur in over four-fifths of MPS patients and are clinically significant across all types of MPS. Hydrocephalus, CVJ instability, spinal cord compression, and progressive spinal deformity represent the major surgical morbidities. Early recognition, structured imaging surveillance, and timely neurosurgical intervention are essential components of MPS management.