Chiari I malformation and syringomyelia in mucopolysaccharidosis type I (Hurler syndrome) treated with posterior fossa decompression: Case report and review of the literature

BACKGROUND: Hurler Syndrome is the most severe phenotype of mucopolysaccharidosis type I. With bone marrow transplant and enzyme replacement therapy, the life expectancy of a child with Hurler syndrome has been extended, predisposing them to multiple musculoskeletal issues most commonly involving the spine. CASE DESCRIPTION: This is the case report of a 6-year-old male with Hurler syndrome who was diagnosed with Chiari I malformation and cervicothoracic syringomyelia on a preoperative magnetic resonance imaging (MRI) for his thoracolumbar kyphosis. This report details the successful management of a Chiari I malformation and syringomyelia with posterior fossa decompression in a child with Hurler syndrome. CONCLUSION: Children born with MPS I can have complex spine issues that require surgical management. The most common orthopedic spinal condition for these patients, thoracolumbar kyphosis, requires evaluation with an MRI before performing surgery. This resulted in the diagnosis of a Chiari I malformation and syringomyelia in our patient with Hurler syndrome. This was successfully treated with decompression of the posterior fossa.