Camptodactyly, arthropathy, coxa vara, and pericarditis syndrome among egyptians.

OBJECTIVE: To highlight the clinical, radiological, and pathological presentations of 10 Egyptian patients with camptodactyly, arthropathy, coxa vara, and pericarditis (CACP) syndrome. Methods. Ten cases underwent a full history, complete clinical examination, laboratory and radiological investigations (and magnetic resonance imaging, MRI, of knee joints); arthroscopic histopathological synovial studies were performed in 6 cases. Results. Camptodactyly and large joint arthropathies were present in all cases. The onset was at birth in 5 cases, and consanguinity was present in all cases. Laboratory investigations were normal in all cases (normal complete blood cell count, erythrocyte sedimentation rate, absent rheumatoid factor, and antinuclear antibody). Synovial fluid analyses were acellular in 3, hypocellular in 4, and moderately cellular in 2 cases. Histopathology revealed noninflammatory synovial hyperplasia in the 6 synovial biopsies obtained, with multinucleated giant cells in 4 of them. Plain hip radiology revealed short broad femoral neck and widening of joint space in all cases, with coxa vara in 9 cases. MRI of the knees showed rim-like enhancement of the lining of the fluid filled bursae in 7 cases, and homogenous enhancement pattern in 2 cases. No evident cartilage destruction existed in any case.
CONCLUSION: Our cases represent a familial syndrome of noninflammatory arthropathies associated with camptodactyly and coxa vara. The complete picture of the syndrome may be related to disease duration, and MRI is a useful tool in diagnosis. Physicians should be aware of the syndrome, to avoid misdiagnosis with other pediatric connective tissue diseases.