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

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.