Cervical involvement in Morquio syndrome

Morquio syndrome is a rare autosomal recessive skeletal dysplasia characterized by altered mucopolysaccharide metabolism. Typical cervical vertebra involvement drew our attention in an 11-year-old girl with Morquio syndrome. In patients with Morquio syndrome, narrowing of the soft-tissue gap can be observed in the vertebrae posteriorly because of glycosaminoglycan accumulation [ [1] McKay S.D. Al-Omari A. Tomlinson L.A. Dormans J.P. Review of cervical spine anomalies in genetic syndromes. Spine. 2012; 37: E269-E277 Crossref PubMed Scopus (65) Google Scholar ]. In our case, canal narrowing and cervical cord compression were observed because of thickening of the posterior vertebra at the craniovertebral junction. Mild hydrocephalus was seen on cranial magnetic resonance imaging and was thought to be associated with the canal narrowing at the C1 level. In addition to the other findings, a fusion defect was seen in the C1 vertebra anteriorly and posteriorly (Figure).