Camptodactyly Arthropathy CoxaVara Pericarditis Syndrome: Early diagnosis prevents unnecessary and harmful treatment

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-infl ammatory arthropathy, coxa vara deformity, or other dysplasia associated with progressive hip disease and non-infl ammatory 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 Maher1*, Mohamed Hashem M Mahgoob1 and Nadia El Ameen2 1Assistant Professor of Pediatrics-Minia University Hospital -Egypt 2Assistant 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, Assistant Professor of Pediatrics, Minia University Hospital, Egypt, Tel: 00201001097818; E-mail:


Introduction
Juvenile idiopathic arthritis is the most common infl ammatory 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 fi ndings 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-infl ammatory arthropathy, with specifi c 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 fi ngers 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-infl ammatory drugs (NSAID) on 2mg/kg for 6 weeks. On follow up visit there was slight signifi cant 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 fi ngers with swelling of both knees and wrists without restricted motion or signs of infl ammation like erythema or tenderness. There was also, a waddling gait the parents also stated that they had noticed bent fi ngers 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. This condition was fi rst described in 1986 [4] and is a syndrome of camptodactyly, arthropathy, coxa vara and pericarditis [5]. It may also include congenital cataracts [6]. The cause of this syndrome was discovered in 1999 [7].
Children with this syndrome often present with a joint effusion that is cool and resistant to anti-infl ammatory therapy. The arthropathy principally involves large joints such as elbows, hips, knees, and ankles [6]. Pericarditis may be a presenting feature or may occur later in the course of the disease but in our case we found Mitral regurge with normal systolic function. Coxa vara occurs in 50-90% of cases and noninfl ammatory pericarditis in 30%.The main line of treatment is physiotherapy and supportive analgesics like paracetamol [7].