Castberg, Filip Christian1; Kjaergaard, Susanne2; Mosig, Rebecca A3; Lobl, Mollie3; Martignetti, Chiara3; Martignetti, John A3; Myrup, Charlotte4; Zak, Marek5
1 Department of Paediatrics and Adolescent Medicine, Juliane Marie Centre, Rigshospitalet, The Capital Region of Denmark2 Klinisk Genetisk Klinik, Juliane Marie Centre, Rigshospitalet, The Capital Region of Denmark3 unknown4 Department of Pediatrics, Amager and Hvidovre Hospital, The Capital Region of Denmark5 Hæmatologisk Klinik, Finsencentret, Rigshospitalet, The Capital Region of Denmark
case report and literature review
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.
European Journal of Pediatrics, 2013, Vol 172, Issue 12, p. 1657-63