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

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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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Abbreviations

DNA:

Deoxyribonucleic acid.

JIA:

Juvenile idiopathic arthritis.

MIM:

Mendelian inheritance in man

MMP2:

Matrix metalloproteinase 2

MONA:

Multicentric osteolysis with nodulosis and arthropathy

SDS:

Standard deviation score

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Conflict of interest

The authors declare that they have no conflict of interest.

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The authors have received parental consent to report relevant clinical information and publish images of the patient.

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Authors and Affiliations

  1. Department of Paediatrics and Adolescent Medicine, Juliane Marie Centre, Rigshospitalet, Copenhagen, Denmark

    Filip Christian Castberg, Charlotte Myrup & Marek Zak

  2. Department of Clinical Genetics, Juliane Marie Centre, Rigshospitalet, Copenhagen, Denmark

    Susanne Kjaergaard

  3. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA

    Rebecca A. Mosig, Mollie Lobl, Chiara Martignetti & John A. Martignetti

  4. Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, USA

    John A. Martignetti

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  1. Filip Christian Castberg
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  2. Susanne Kjaergaard
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  3. Rebecca A. Mosig
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  4. Mollie Lobl
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  5. Chiara Martignetti
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  6. John A. Martignetti
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  7. Charlotte Myrup
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  8. Marek Zak
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Correspondence to Filip Christian Castberg.

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Castberg, F.C., Kjaergaard, S., Mosig, R.A. et al. Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review. Eur J Pediatr 172, 1657–1663 (2013). https://doi.org/10.1007/s00431-013-2102-8

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  • DOI: https://doi.org/10.1007/s00431-013-2102-8

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