Abstract
Background
Camptodactyly, arthropathy, coxa vara, pericarditis (CACP) syndrome is a rare genetic disorder with autosomal recessive transmission including camptodactyly, synovial hyperplasia-related arthropathy, progressive coxa vara deformity and non-inflammatory pericarditis. We report the observation of a case.
Observation
S.Y aged 8.5 years, from a consanguineous marriage, presented with a chronic arthropathy affecting wrists, knees and ankles that had been evolving for 6 years and currently, elbows are also affected. The history includes surgery for claw deformity of the hands at the age of 3. No similar cases in the family.
Osteoarticular examination showed symmetrical swelling of the elbows, wrists (Fig. 1),knees (Fig. 2) and ankles (Fig. 3.The affected joints were neither red, painful nor warm on palpation, with normal mobility.
The onset of symptoms could not be determined due to the indolence of the condition and the rest of the clinical examination was unremarkable.
Discussion
CACP syndrome is a more common condition in the Middle East and North Africa, with about 20 cases reported worldwide. This syndrome is still poorly understood and is often confused with juvenile idiopathic arthritis. It should be suspected in the presence of any congenital claw deformity of the hands (camptodactyly) with a chronic non-inflammatory arthropathy, which are constant signs. Coxa-vara and pericarditis (found respectively in 60 and 30% of cases) should be systematically sought. The consanguinity reported in the literature is also present in our case. However, there are no similar cases in siblings. The diagnosis is important, thus avoiding the initiation of unnecessary treatments such as corticosteroids, DMARDs or biotherapy.
Biology
no inflammatory syndrome, FAN negatives.
Standard X-ray of the pelvis
presence of a coxa-vara on the right
Joint ultrasound
common tenosynovitis of the extensors of the fingers, effusion with synovial hypertrophy without a Doppler catch of the elbows, knees and ankles
Myelogram without abnormality.
Cardiac ultrasound without pericarditis.
The diagnosis of CACP was made in view of: a history of camptodactyly, chronic non-inflammatory arthropathy and coxa-vara.
Analgesic treatment was instituted in case of pain, with cardiac monitoring by ultrasound every 6 months.
Conclusion
CACP syndrome is a rare disease often confused with juvenile idiopathic arthritis. Congenital camptodactyly and non-inflammatory arthropathy are very evocative of the diagnosis. The absence of similar cases in siblings makes our observation special.
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey