ArticleSurgical neurology international2025
A case of recurrent spinal cord compression at craniocervical junction due to type IV mucopolysaccharidosis.
Article in Surgical neurology international, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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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