Open Journal of Orthopedics and Rheumatology 012 Citation: Maher SE, Mahgoob MHM, El Ameen N (2017) Camptodactyly Arthropathy CoxaVara Pericarditis Syndrome: Early diagnosis prevents unnecessary and harmful treatment. Open J Orthop Rheumatol 2(1): 012-014. DOI: http://dx.doi.org/10.17352/ojor.000008 Clinical Group CC By http://dx.doi.org/10.17352/ojor.000008 DOI Abstract Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a genetic disorder caused by mutation in the Proteoglyacn PRG4 gene on chromosome 1. The syndrome is characterized by congenital or early onset camptodactyly and childhood-onset of non-inflammatory arthropathy, coxa vara deformity, or other dysplasia associated with progressive hip disease and non-inflammatory pericardial effusion. It has an autosomal recessive mode of inheritance and the causative gene is located on chromosome band 1q25-31. Case Report Camptodactyly Arthropathy CoxaVara Pericarditis Syndrome: Early diagnosis prevents unnecessary and harmful treatment Sheren Esam Maher 1 *, Mohamed Hashem M Mahgoob 1 and Nadia El Ameen 2 1 Assistant Professor of Pediatrics-Minia University Hospital -Egypt 2 Assistant Professor of Radiology -Minia University Hospital -Egypt Dates: Received: 04 April, 2017; Accepted: 26 May, 2017; Published: 29 May, 2017 *Corresponding author: Sheren Esam Maher, As- sistant Professor of Pediatrics, Minia University Hospital, Egypt, Tel: 00201001097818; E-mail: Keywords: Camptodactyly-Arthropathy-Coxa; Vara- Pericarditis Syndrome; Juvenile idiopathic arthritis; Non-erosive arthropathy https://www.peertechz.com Introduction Juvenile idiopathic arthritis is the most common inflammatory joint disease. No single clinical sign or symptom or test result distinguishes it from other joint diseases, nor are the pathological features of synovitis [1]. Rather it diagnosed by a combination of clinical findings and laboratory tests. There are a number of disease entities affecting the joints that may present in a similar way. Treatment of juvenile idiopathic arthritis now based on more aggressive management including the use of traditional disease-modifying antirheumatic drugs upon disease onset and the early use of biologics [2]. We present a case of a male child who presented with early onset camptodactyly, non-inflammatory arthropathy, with specific features magnetic resonance imaging (MRI). Case Report A 3-year 5-month-old boy presented with a one year history of swelling of both knees and wrists. The mother complained from swelling that progress to joint pain and limitation of movement. She also noticed bending deformity of three fingers of his hands. There was no systemic symptoms as fever, rash, abdominal pain or swelling. Laboratory Investigation of our patient at the onset of the disease: Routine blood work-up revealed normal hemogram, Erythrocyte Sedimentation Rate (ESR) and C-reactive protein (CRP) with negative Antinuclear Antibody (ANA) and Rheumatoid factor (RF). Knee US report showed joint effusion and synovial membrane hypertrophy. So, patient started Non-steroidal anti-inflammatory drugs (NSAID) on 2mg/kg for 6 weeks. On follow up visit there was slight significant Improvement .Our patient diagnosed as oligoarthritis class of Juvenile Idiopathic Arthritis after exclusion of other conditions associated with or mimicking arthritis. Follow up of our patient revealed no improvement of joint state so new line started in the form of intra articular steroid injection and biological therapy. Course of the disease remain stationery without any improvement. More investigations as -Gal An enzyme activity assay in leucocytes for Fabry disease which came normal. Our patient came to our pediatric Rheumatology clinic – Minia University where he was reevaluated. On examination, the patient had camptodactyly of the fingers with swelling of both knees and wrists without restricted motion or signs of inflammation like erythema or tenderness. There was also, a waddling gait the parents also stated that they had noticed bent fingers for nearly one and a half years. Systemic examination showed no evidence of fever, lymphadenopathy, skin rash, or other systemic features but cardiac auscultation there was pan systolic murmur on mitral area grad III (MR). Echocardiography showed mild mitral regurge with normal systolic function.