FAMILIAL CAMPTODACTYLY COXA VARA PERICARDITIS SYNDROME MASQUARADING AS JUVUNILE IDIOPATHIC ARTHRITIS
| Autor: | Shahzadi Sumbal Ghazi, Muhammad Umar Nisar, Samer Sikander, Jai Krishin |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | Khyber Medical University Journal, Vol 10, Iss 4, Pp 221-223 (2018) |
| Druh dokumentu: | article |
| ISSN: | 2305-2643 2305-2651 |
| Popis: | The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive disease characterized by congenital or early-onset camptodactyly, childhood-onset non-inflammatory arthropathy associated with synovial hyperplasia, constrictive pericarditis and coxa vara. This rare disease is caused by mutations in PRG4 Gene which encodes for lubricin, a protein present in synovial fluid responsible for lubrication. The case we are reporting is of 9 and half years old boy who presented to us in pediatric Out Patient Department with early onset camptodactyly and non-inflammatory arthropathy. Synovial biopsy shows synovial hyperplasia with numerous CD68 positive multinucleated giant cells. He was discharged and physiotherapy was advised with regular follow ups. |
| Databáze: | Directory of Open Access Journals |
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