A case of recurrent spinal cord compression at craniocervical junction due to type IV mucopolysaccharidosis.

Surgical neurology international Pub Date : 2025-06-20 eCollection Date: 2025-01-01 DOI:10.25259/SNI_333_2025

Jun Hashimoto, Toshinari Kawasaki, Tamaki Kobayashi, Yoshihiko Ioroi, Motohiro Takayama

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Abstract

Background: Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal genetic storage disorder caused by the accumulation of glycosaminoglycans in tissues and organs. A 10-month-old male with MPS VI had originally undergone foramen magnum decompression (FMD)/C1 followed by lifelong enzyme replacement therapy (ERT). At age 15, the patient underwent successful surgical treatment for retro-odontoid disease and recurrent cranio-cervical junction (CCJ) stenosis through a C1-C3 laminectomy and expansive duroplasty.

Case description: A 10-month-old male with MPS VI and brain stem/spinal cord compression originally underwent a cervical FMD/C1 laminectomy. Despite ERT administration, signs of gait disturbances and myelopathy recurred before 1 year of age. At age 15, both computed tomography and magnetic resonance imaging revealed a retro-odontoid mass causing foramen magnum stenosis/upper cervical cord compression. Following an extended FMD that included a C1-C3 laminectomy and expansive duroplasty, his gait disturbance gradually improved.

Conclusion: Patients with MPS VI may experience recurrent CCJ stenosis and spinal cord compression despite the early initiation of ERT.

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IV型粘多糖病致复发性颅颈交界处脊髓压迫1例。

背景：粘多糖病（Mucopolysaccharidosis type VI, MPS VI）是一种常染色体隐性溶酶体遗传贮积症，由糖胺聚糖在组织和器官中积累引起。一名10个月大的MPS VI男性患者最初接受了枕骨大孔减压(FMD)/C1，随后终生接受酶替代治疗（ERT）。15岁时，患者通过C1-C3椎板切除术和扩张性硬膜成形术成功治疗后齿状突疾病和复发性颅颈结（CCJ）狭窄。病例描述：一个10个月大的男性MPS VI和脑干/脊髓压迫最初接受了颈椎FMD/C1椎板切除术。尽管给予ERT治疗，步态障碍和脊髓病的迹象在1岁前复发。15岁时，计算机断层扫描和磁共振成像均显示齿状突后肿块导致枕骨大孔狭窄/上颈髓受压。在包括C1-C3椎板切除术和扩张性硬膜成形术的扩展FMD后，他的步态障碍逐渐改善。结论：尽管早期开始ERT治疗，MPS VI患者仍可能出现复发性CCJ狭窄和脊髓压迫。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Surgical neurology international

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