Adult Morquio syndrome requiring occipito-thoracic fusion

Abstract

Morquio syndrome is a relatively rare entity that is often associated with atlantoaxial instability from early childhood due to odontoid dysplasia based on a mucopolysaccharoidal disorder. Here, we present the case of a 55-year-old male patient with Morquio syndrome who developed cervical myelopathy, which is an extremely rare condition in the older population. Myelopathy developed gradually with upper-limb paresthesia and clumsiness of both hands. The patient had a characteristic “gargoyle-like” coarse face with a trunk shortening-type short stature. Imaging of the cervical spine demonstrated several problems, including diminutive structures called platyspondyly with small pedicles and fragile bone quality, hypoplasia of the C1 posterior arch that migrated into the spinal canal, and os odontoideum with atlantoaxial instability. With intraoperative navigation guidance, posterior decompression of C1 followed by occipito-cervico-thoracic spinal fusion was successfully performed in this complicated case. Clinical and radiographic outcomes were both excellent and have been maintained for 2 years postoperatively.