{"id":"dca17d9d-bd2f-436c-bcf4-733d81e5da7f","slug":"a-case-of-recurrent-spinal-cord-compression-at-craniocervical-junction-due-to-type-iv-mucopolysaccharidosis","title":"A case of recurrent spinal cord compression at craniocervical junction due to type IV mucopolysaccharidosis","authors":["Jun Hashimoto","Toshinari Kawasaki","Tamaki Kobayashi","Yoshihiko Ioroi","Motohiro Takayama"],"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.","thumbnailUrl":"https://sni-digital-videos.s3.amazonaws.com/articles/dca17d9d-bd2f-436c-bcf4-733d81e5da7f/featured/hero-1781558517324.png","publishDate":"2025-06-20T00:00:00.000Z","doi":"10.25259/SNI_333_2025","categories":["Spine","Case Report"],"fullTextUrl":"https://surgicalneurologyint.com/api/articles/dca17d9d-bd2f-436c-bcf4-733d81e5da7f/pdf"}