Children's Hospital Zagreb, Klaićeva 16, 10000, Zagreb, Croatia.
School of Medicine, University of Zagreb, Šalata 3, 10000, Zagreb, Croatia.
Rheumatol Int. 2019 Sep;39(9):1655-1660. doi: 10.1007/s00296-019-04346-0. Epub 2019 Jun 18.
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.
脊柱关节病是指脊柱关节的任何疾病，但该术语主要用于一组特定的疾病，称为血清阴性脊柱关节病（SpA）。轴性骨骼受累、周围和关节外表现以及与主要组织相容性复合体 I 类人类白细胞抗原-B27（HLA B27）的关联是 SpA 的常见共同特征。克莱佩尔-费尔综合征（KFS）是一种罕见的先天性疾病，其特征是一个或多个颈椎融合，伴有各种骨骼和关节外异常。我们报告了一例 HLA B27 阳性的成年男性患者，表现为慢性颈痛，伴有晨僵和周期性夜间痛，影像学证实多个颈椎段强直和融合。他的病史包括儿童时期接受的泌尿生殖异常手术和轻度二尖瓣脱垂。在经过全面检查后，最初怀疑为早期轴性 SpA 的诊断被排除。相反，椎体缺陷的性质以及泌尿生殖和心脏异常的既往病史提示诊断为 KFS。在出现脊柱疼痛的患者中，HLA B27 的存在可能会造成干扰，因此在某些患者中，CSD-s 和 SpA 的鉴别诊断可能具有挑战性。
