Klippel–Feil syndrome misdiagnosed as spondyloarthropathy: case-based review
| Autor: | Mislav Pap, Stjepan Čota, Iva Žagar, Porin Perić, Doroteja Perić, Valentina Delimar |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male musculoskeletal diseases medicine.medical_specialty Spondyloarthropathy Immunology Klippel–Feil syndrome congenital spinal deformity HLA B27 klippel–feil syndrome spondyloarthropathy 03 medical and health sciences 0302 clinical medicine Rheumatology Predictive Value of Tests medicine Humans Immunology and Allergy Medical history 030212 general & internal medicine Diagnostic Errors HLA-B27 Antigen Physical Therapy Modalities 030203 arthritis & rheumatology Past medical history business.industry Anti-Inflammatory Agents Non-Steroidal medicine.disease Combined Modality Therapy Dermatology Treatment Outcome medicine.anatomical_structure Klippel-Feil Syndrome Spondylarthropathies Differential diagnosis business Vertebral column Cervical vertebrae Congenital disorder |
| Zdroj: | Rheumatology International. 39:1655-1660 |
| ISSN: | 1437-160X 0172-8172 |
| DOI: | 10.1007/s00296-019-04346-0 |
| Popis: | Spondyloarthropathy refers to any joint disease of the vertebral column, but the term is mainly used for a specific group of disorders called seronegative spondyloarthropathies (SpAs). The axial skeletal involvement, peripheral and extra-articular manifestations and an association with the major histocompatibility complex class I human leukocyte antigen-B27 (HLA B27) are commonly shared features of SpAs. Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of one or more cervical vertebrae, accompanied by various skeletal and extra-skeletal anomalies. We report a case of an adult male patient with HLA B27 positivity presenting with chronic cervical spine pain accompanied by morning stiffness and periodic night pain, with radiologically confirmed ankylosis and fusion of several cervical segments. His medical history included urogenital abnormalities operated in childhood and mild mitral prolapse. Initially suspected diagnosis of an early axial form of SpA was rejected after thorough workup. Instead, the nature of vertebral defects along with the past medical history of urogenital and cardiac abnormalities pointed towards the diagnosis of KFS. HLA B27 presence can be a confounder in patients presenting with spinal pain and that is why the differential diagnosis of CSD-s and SpA can be challenging in some patients. |
| Databáze: | OpenAIRE |
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