1009 - Ankylosing Spondylitis with Primary Cervical Involvement in a Patient with Gorlin Syndrome

Case Diagnosis: Ankylosing Spondylitis with Primary Cervical Involvement in a Patient with Gorlin Syndrome

Case Description: A 31-year-old male with Gorlin Syndrome presented with neck and upper back pain, along with intermittent numbness of the left leg. Since 2020, he had progressive cervical stiffness and significant loss of range of motion. Examination revealed marked restriction of active and passive cervical movements in all planes.

Magnetic resonance imaging (MRI) of the cervical spine showed ossification of the anterior longitudinal ligament, ligamentum flavum, and craniocervical junction, with ankylosis of vertebral bodies—findings consistent with ankylosing spondylitis (AS). HLA-B27 testing was positive, and he was referred to rheumatology. Treatment was initiated with an interleukin-17 inhibitor, with additional pain management through trigger point therapy, physical therapy, and baclofen.

Discussions: This case illustrates an atypical presentation of AS, with initial symptoms localized to the cervical spine rather than the more common lumbar and sacroiliac regions. The co-occurrence of Gorlin Syndrome further distinguishes this case. Gorlin Syndrome is a genetic condition associated with basal cell carcinoma, skeletal anomalies (including bifid or splayed ribs), calcification of the falx cerebri, and odontogenic jaw cysts.

Only one prior case report has described an individual with both Gorlin Syndrome and AS—an 80-year-old with a typical AS course. While no established link exists between the two conditions, reporting such presentations is essential for exploring potential associations and broadening recognition of atypical disease manifestations.

Conclusions: The coexistence of Gorlin Syndrome and AS highlights the need for continued reporting and investigation. Such cases may help determine whether the overlap is coincidental or clinically significant and emphasize the importance of recognizing atypical presentations, including primary cervical involvement.