Osteoarthritis at Young Age, a Diagnostic Challenge: A Case of Stickler Syndrome



Isabelle de Wergifosse*, Rene Westhovens
Division of Rheumatology, University Hospital, Leuven, Belgium


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© de Wergifosse and Westhovens; Licensee Bentham Open.

open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.

* Address correspondence to this author at the Division of Rheumatology, University Hospital, Leuven, Belgium; Tel: 016-342541; Fax: 016-342543; E-mail: dewergifosse@uzleuven.be, isabelleke424@msn.com


Abstract

A young woman presents with severe polyarticular osteoarthritis with relevant family history potentially suggesting a hereditary disease. Previously, the patient’s mother had been diagnosed with rheumatoid arthritis and reported to have suffered from some locomotor problems. Careful clinical evaluation with an extensive personal and familial history pointed towards a diagnosis of Stickler syndrome, an autosomal dominant condition with progressive arthro-ophthalmopathy, (early osteoarthritis and myopia). Following this timely diagnosis, genetic counselling was offered.

Keywords: Myopia, osteoarthritis, scoliosis, Stickler Syndrome. .