Spinal involvement in Camptodactyly Arthropathy Coxa-vara Pericarditis (CACP) syndrome in two Yemeni sisters
نویسندگان
چکیده
Aim of the work: The objective of this clinical report is to describe the detailed magnetic resonance imaging (MRI) findings of the spine, knee and hip joints in two young sisters with Camptodactyly Arthropathy Coxa-vara Pericarditis (CACP) syndrome. Cases report: In two young sisters, both had normal levels of inflammatory markers and typical features of the CACP syndrome with camptodactyly, symmetric joint swelling of both hand joints, knees, ankles and both feet. The affected joints were not tender on palpation with no overlying redness or hotness. Coxa vara on plain X-ray and all cases have evidence of pericarditis. The MRI studies showed the typical rim pattern enhancement of the synovial membrane in the knee and hip joints in both, with no evidence of pannus formation, yet a sizable amount of joint effusion. Both had protrusio acetabuli and one had a unilateral synovial cyst of the hip. MRI studies of the lumbar spine showed evidence of facet joint arthropathy and facet joint effusion, a synovial cyst in both cases and synovial enhancement in postcontrast images with no associated facet joint ankylosis. Conclusion: The findings of the two cases confirm the possible axial affection in the CACP syndrome in the form of facet joint disease as a new finding in this rare syndrome. Spinal involvement should be screened in all cases, as it may have consequences for diagnosis and treatment. 2016 Egyptian Society of Rheumatic Diseases. Publishing services provided by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
منابع مشابه
Camptodactyly, Arthropathy, Coxa vara, Pericarditis (CACP)Syndrome: A Case Report
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is characterized by congenital or early-onset camptodactyly, childhood-onset noninflammatory arthropathy associated with synovial hyperplasia. Some patients have progressive coxa vara deformity and/or noninflammatory pericardial effusion. CACP is inherited as an autosomal recessive mode and the disease gene is assigned to a 1....
متن کاملThe Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
OBJECTIVE Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is an autosomal recessive disorder caused by mutations in PRG4 gene that encodes for proteoglycan 4, the main lubricant for joints and tendon surfaces. It is a non-inflammatory arthropathy, characterized by joint effusions and synovial hypertrophy. So far, there is no effective treatment for this disorder. To evaluate th...
متن کاملProtein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome
BACKGROUND Camptodactyly-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 syndrom...
متن کاملCACP syndrome (Camptodactyly Arthropathy Coxa Vara Pericarditis). Clinical case
Case Report Our patient, a 6 year old girl was diagnosed with the CACP syndrome at the age of 30 months. Her parents were negative for consanguinity. As an infant the patient was diagnosed with camptodactyly. At the age of 18 months frequent swelling of the knee was observed. Examination by rheumatologist confirmed the presence of swelling to elbows, wrists, knees, and ankles, without limitatio...
متن کاملAnti-Lubricin Monoclonal Antibodies Created Using Lubricin-Knockout Mice Immunodetect Lubricin in Several Species and in Patients with Healthy and Diseased Joints
Lubricin, encoded by the gene PRG4, is the principal lubricant in articulating joints. We immunized mice genetically deficient for lubricin (Prg4-/-) with purified human lubricin, and generated several mAbs. We determined each mAb's binding epitope, sensitivity, and specificity using biologic samples and recombinant lubricin sub-domains, and we also developed a competition ELISA assay to measur...
متن کامل