Axial involvement with facet joint arthropathy and bony ankylosis in a case of camptodactyly, arthropathy, coxa vara, pericarditis (CACP) syndrome

Abstract

Familial arthropathy associated with congenital camptodactyly has been previously recognized as a definite clinical entity in the literature. The clinical spectrum of this disease seems to be variable. The typical features of congenital camptodactyly, arthropathy, coxa vara and pericarditis (CACP syndrome) appear to be a more frequent presentation in children from the Middle East and North Africa. Musculoskeletal presentation of this rare familial form of arthropathy is unique and heterogeneous. In all previous reports, non-inflammatory pattern of arthropathy involving the peripheral joints with typical coxa vara deformity were described, and in a few cases spine abnormalities, including kyphosis, lordosis, or scoliosis. We describe the first case of axial involvement in a typical case of CACP syndrome with facet joint arthropathy and ankylosis at L5/S1 levels.

Keywords: Axial joints affection; Camptodactyly, arthropathy, coxa vara, pericarditis (CACP) syndrome; Facet joint ankylosis; Facet joint arthropathy.