Osteoarthritis in a fifty-year-old patient with unfused skeleton due to undiagnosed coexisting cleidocranial and spondyloepiphyseal dysplasia – Case report. (July 2022)

• Record Type: Journal Article
• Authors: Zaidi, Dr Mahum; Akhtar, Sareema Eman; Shakil, Saad; Wasif, Dr Muhammad; Siraj, Dr Rabiya; Almas, Talal; Ramjohn, Joshua; Alkhattab, Maha; Ahmed, Reema; Thakur, Tushar
• Is Part Of: Annals of medicine and surgery. Volume 79(2022)
• Publication Date: 2022-07
• Subjects: Cleidocranial dysplasia (CCD) -- Spondyloepiphyseal dysplasia (SED) -- Skeletal dysplasia -- Radiology -- Xray; Surgery -- Periodicals; Medicine -- Periodicals; General Surgery -- Periodicals; Education, Medical -- Periodicals; Periodicals; 617
• DOI: 10.1016/j.amsu.2022.104066
• Languages: English
• ISSNs: 2049-0801

Abstract

Abstract: Background: Skeletal dysplasia's cause significant neurological symptoms and disrupt the development of many bones and cartilages in the body. Skeletal dysplasia, although a common presentation in paediatric population, rarely presents in older age group. Case presentation: This case presents a unique incidental finding of skeletal dysplasia in a fifty-year-old male patient who presented with osteoarthritis. Eventual workup uncloaked the presence of cleidocranial dysplasia and spondyloepiphyseal dysplasia. The patient in this case had both dysplasias at the same time. Discussion: Cleidocranial dysplasia and Spondyloepiphyseal dysplasia are two uncommon autosomal dominant dysplasia's that are often diagnosed in early life and can have serious consequences, including death. It is critical to diagnose a child early in life. Radiology findings from a thorough skeletal examination aid in the early detection of numerous dysplasia's, which helps improving quality of life and allowing for effective treatment. Conclusion: The novelty of our presented case lies in the rare presentation of CCD and SED occurring concurrently at an older age with accompanying collateral abnormalities usually emerging more commonly in infants. Early diagnosis is thus essential for optimal management. Highlights: Skeletal dysplasia is a heterogeneous group of disorders which are genetic in nature and comprise around 400 disorders. In the case presented, radiological findings revealed two very rare skeletal dysplasia in a fifty year old patient which were cleidocranial dysplasia as well spondyloepiphyseal dysplasia. This is of particular importance as these are commonly present in neonates and infants but in this case, it was an incidental finding in a patient undergoing radiological investigations for osteoarthritis.