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01-12-2013 | Original Article

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

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

Published in: European Journal of Pediatrics | Issue 12/2013

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.

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Title: Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review
Authors: Filip Christian Castberg
Susanne Kjaergaard
Rebecca A. Mosig
Mollie Lobl
Chiara Martignetti
John A. Martignetti
Charlotte Myrup
Marek Zak
Publication date: 01-12-2013
Publisher: Springer Berlin Heidelberg
Published in: European Journal of Pediatrics / Issue 12/2013
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-013-2102-8

At a glance: The STEP trials

Springer Medicine

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

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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