Occipitocervical fusion and decompression in Morquio syndrome: a case report and literature review.

Abstract

Mucopolysaccharidosis IVA, also known as Morquio syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Spinal involvement, particularly at the craniocervical junction, is a major contributor to morbidity and mortality due to atlantoaxial instability and cervical spinal stenosis. Early diagnosis and timely surgical intervention are essential to prevent irreversible neurological deterioration. In this report, we present the case of a 10-year-old girl with progressive quadriparesis due to severe cervical myelopathy associated with mucopolysaccharidosis IVA. She underwent successful occipitocervical decompression and fusion, resulting in significant neurological improvement and long-term spinal stability. This case highlights the importance of early recognition and surgical management of cervical spine pathology in Morquio syndrome. Additionally, a review of the literature on surgical strategies for craniocervical instability in mucopolysaccharidosis IVA is presented.