Risk and clinical characteristics of spinal cord compression across different mucopolysaccharidosis types: A retrospective cohort study

In patients with mucopolysaccharidosis (MPS), the accumulation of glycosaminoglycans leads to various complications, including spinal cord compression (SCC). Although SCC is a well-known complication in MPS, data comparing its clinical features across different MPS types remain limited. This study aimed to investigate the timing, location, and underlying causes of SCC in MPS, as well as to compare the risk and clinical characteristics by MPS type. We conducted a retrospective cohort study, reviewing the medical records of 183 patients with all types of MPS who were followed at Samsung Medical Center from January 1995 to March 2024. The distribution of patients diagnosed with SCC by MPS type was 33.3% for type I, 10.5% for type II, 55.0% for type IV, and 100% for type VI. The median age at SCC diagnosis was 16.3 years. Compared to type II, the risk of SCC was higher for type I (2.4 times, 95% confidence interval [CI]: 0.9-6.2), type IV (3.5 times; 95% CI: 1.5-8.1), and type VI (4.5 times, 95% CI: 1.2-16.4). Enzyme replacement therapy did not reduce the risk of SCC (P = .70). Moreover, SCC most frequently occurred at the C0 to C4 and T11 to L2 spinal levels. In the cervical spine, ligament thickening, and skeletal deformities were the predominant causes, whereas in the thoracolumbar spine, kyphoscoliosis and intervertebral disc issues were the main contributors. Although there was no significant difference in the location of SCC (P = .99), the underlying causes varied significantly by MPS type (P < .001). SCC is a common complication in MPS, but its risk and pathophysiology vary by MPS type. Therefore, an individualized approach is needed for early detection and appropriate intervention.