In mucopolysaccharidoses (MPS), spinal cord compression (SCC) resulting from glycosaminoglycan (GAG) accumulation is a critical complication that can cause significant neurological and respiratory morbidities. However, clinically similar disorders such as mucolipidosis types II and III (ML) with SCC have been scarcely reported. Herein, we report four patients with ML who had SCC. Brain MRI revealed progressive spinal canal stenosis and SCC. In addition, T2-weighted high signal changes in the cervical cord were detected in two cases. Severe cases of SCC were detected as early as 1 year of age. All cases had respiratory problems. One case showed severe hypoxia and another, severe sleep apnea. In two cases, respiratory insufficiency and tetraplegia rapidly progressed as SCC progressed. Then, the patients became bedridden and needed artificial ventilation. In addition, two of the four patients died of respiratory failure. The autopsy of one patient revealed a compressed cervical cord and marked dura mater thickening due to GAG accumulation. These findings suggest that the accumulation of substrates in the dura mater caused SCC in the patients with ML. Our cases indicate that SCC is expected to be a common and critical complication of ML and MPS. MRI evaluation of cervical involvements and careful clinical observation are required in patients with ML.

在粘多糖症 (MPS) 中，由糖胺聚糖 (GAG) 积累引起的脊髓压迫 (SCC) 是一种严重的并发症，可导致严重的神经和呼吸系统疾病。然而，临床上类似的疾病，如伴有 SCC 的 II 型和 III 型粘脂沉积症 (ML) 几乎没有报道。在此，我们报告了四名患有 SCC 的 ML 患者。脑部 MRI 显示进行性椎管狭窄和 SCC。此外，在 2 例患者中检测到颈髓 T2 加权高信号变化。早在 1 岁时就发现了严重的 SCC 病例。所有病例都有呼吸系统问题。一个病例表现出严重的缺氧，另一个病例表现出严重的睡眠呼吸暂停。在两个病例中，随着 SCC 的进展，呼吸功能不全和四肢瘫痪迅速进展。然后，病人卧床不起，需要人工通气。此外，四名患者中有两名死于呼吸衰竭。一名患者的尸检显示，由于 GAG 积聚，颈髓受压，硬脑膜明显增厚。这些发现表明，硬脑膜中底物的积累导致了 ML 患者的 SCC。我们的案例表明，SCC 有望成为 ML 和 MPS 的常见且严重的并发症。ML 患者需要对颈部受累进行 MRI 评估和仔细的临床观察。这些发现表明，硬脑膜中底物的积累导致了 ML 患者的 SCC。我们的案例表明，SCC 有望成为 ML 和 MPS 的常见且严重的并发症。ML 患者需要对颈部受累进行 MRI 评估和仔细的临床观察。这些发现表明，硬脑膜中底物的积累导致了 ML 患者的 SCC。我们的案例表明，SCC 有望成为 ML 和 MPS 的常见且严重的并发症。ML 患者需要对颈部受累进行 MRI 评估和仔细的临床观察。