Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: Case report and literature review

Filip Christian Castberg, Susanne Kjaergaard, Rebecca A. Mosig, Mollie Lobl, Chiara Martignetti, John A. Martignetti, Charlotte Myrup, Marek Zak

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

The 'vanishing bone' syndrome multicentric osteolysis with nodulosis and arthropathy (MONA) is a rare chronic skeleton disorder caused by matrix metalloproteinase 2 (MMP2) deficiency, mimicking erosive polyarticular juvenile idiopathic arthritis. MONA is characterised by facial dysmorphism, subcutaneous fibrocollagenous nodules, carpal and tarsal osteolysis and interphalangeal joint erosions. We present the case of a 5-year-old boy with double outlet right ventricle, ventricular septal defect, coarctation of the aorta and MONA. Previously, a total of 24 cases of MONA have been reported of which six also had congenital cardiac malformations. Despite treatment attempts of our patient with methotrexate, eternacept and prednisolone, serial X-ray studies documented continuous severe bone degeneration. Conclusion: The case documents the natural history of MONA and establishes a link between MMP2 deficiency and heart development, and given the recurring cardiac association, we suggest that all MONA patients be examined for possible cardiac defects.

Original languageEnglish
Pages (from-to)1657-1663
Number of pages7
JournalEuropean Journal of Pediatrics
Volume172
Issue number12
DOIs
StatePublished - Dec 2013

Keywords

  • Congenital heart defect
  • Juvenile idiopathic arthritis
  • MMP2
  • MONA
  • Matrix metalloproteinase 2
  • Multicentric osteolysis

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