Whose team do you ski for? The simultaneous presence of Klippel-Feil syndrome and diffuse idiopathic hyperostosis mimics clinical presentation of advanced ankylosing spondylitis

Abstract

Ivan Jeremic

Introduction: Klippel-Feil syndrome (KFS) is a congenital fusion of two or more cervical vertebrae. Diffuse idiopathic hyperostosis (DISH) is a disorder in which there is calcification of ligaments and tendons, primarily of the spinal column. The simultaneous occurrence of DISH and ankylosing spondylitis (AS) has seldom been described in the literature. Coexistence of KFS and DISH clinically resembling “skier’s posture” of the advanced AS, to the best of our knowledge has never been described before in literature.

Case Report: 59-years old male was examined by rheumatologist due to inflammatory back pain and prolonged morning stiffness in spinal joints. He had “skier’s posture” which could be clinical sign of advanced axial disease in AS. Functional measurements had also spoken in favor of spondyloarthropathy. Spinal joints radiography described 2nd and 3rd cervical vertebral fusion along with prominent osteophytes and dorsal spine hyperostosis. Sacroiliac joints had no inflammatory or degenerative radiographic changes. Hip joints ultrasound excluded synovitis and effusion.

Conclusion: Patient has two joint diseases, resulting in severe spinal degenerative changes, together resembling clinical presentation of advanced AS.

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