Abstract

BackgroundCamptodactyly-arthropathy-coxa vara-pericarditis (CACP, OMIM: #208250) syndrome is a rare autosomal recessive disease that can be difficult to recognise not only because of its wide clinical variability but also because of its clinical resemblance to juvenile idiopathic arthritis (JIA). PRG4 is the only gene so far known to be associated with CACP syndrome. Children with CACP syndrome lack the glycoprotein lubricin due to recessive mutations in PRG4. Lubricin serves as a lubricant in joints, tendons and visceral cavities (pleural cavity, pericardium) and inhibits synovial proliferation. Children with CACP syndrome suffer from congenital camptodactyly, arthropathy, coxa vara and sometimes pericarditis. This report concerns a child with CACP syndrome complicated by protein-losing enteropathy (PLE), caused by constrictive pericarditis and so contributes to knowledge of the presentation of CACP syndrome.Case PresentationA 10- year-old girl with consanguineous parents suffered from congenital camptodactyly and progressive swollen and painful joints. Her father and his sister had similar childhood-onset joint complaints. Laboratory tests showed no signs of inflammation but showed persistent low protein- and IgG- levels, indicating a secondary immunodeficiency. Increased alpha antitrypsin clearance confirmed PLE. Abdominal ultrasound with Doppler showed hepatomegaly and portal hypertension. Echocardiography suggested constrictive pericarditis. However, heart catheterization could not confirm this. Ultrasound and X-ray examination of the joints combined with a puncture of the synovial fluid were performed. These results, combined with the clinical presentation and the consanguinity, suggested CACP syndrome. Due to excessive enteral protein losses, the patient was treated with Cotrimoxazol prophylaxis and immunoglobulin supplements. These supplements were inadequate to achieve normal IgG values. As constrictive pericarditis with subsequent PLE was the best explanation for the excessive IgG losses, pericardiectomy was performed with good results. Genetic testing in our patient was complicated but revealed a pathogenic mutation within the repeat sequence in exon 7 of the PRG4 gene.ConclusionPLE resulting from constrictive pericarditis can be a complication of CACP syndrome. As serious complications can arise from the resulting secondary immunodeficiency, we recommend regular evaluation of clinical symptoms of constrictive pericarditis and PLE in children with CACP syndrome.Electronic supplementary materialThe online version of this article (doi:10.1186/s12969-016-0093-5) contains supplementary material, which is available to authorized users.

Highlights

  • Camptodactyly-arthropathy-coxa vara-pericarditis (CACP, online mendelian inheritance in man (OMIM): #208250) syndrome is a rare autosomal recessive disease that can be difficult to recognise because of its wide clinical variability and because of its clinical resemblance to juvenile idiopathic arthritis (JIA)

  • protein-losing enteropathy (PLE) resulting from constrictive pericarditis can be a complication of Camptodactyly-arthropathy coxa vara-pericarditis (CACP) syndrome

  • As serious complications can arise from the resulting secondary immunodeficiency, we recommend regular evaluation of clinical symptoms of constrictive pericarditis and PLE in children with CACP syndrome

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Summary

Conclusion

To the best of our knowledge, this is the first account of a case of massive PLE resulting from constrictive pericarditis that presents as a complication in a patient with CACP syndrome. It is possible for PLE to be the only sign of constrictive pericarditis. As serious complications can arise from the resulting secondary immunodeficiency, it is advisable to examine children with CACP syndrome regularly for clinical signs of PLE and constrictive pericarditis. In the case of a positive result, a referral for full cardiac examination and an evaluation of immunoglobulins is recommended. Consent Written informed consent was obtained from the parents of the patient for the publication of this case report, including associated images. A copy of the written consent is available for review by the Editor-in-Chief of this journal

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