title: Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Juliane Marie Centre, Rigshospitalet, Copenhagen, Denmark, fcastberg@gmail.com.
authors.forename: Filip Christian
authors.initials: FC
authors.lastname: Castberg
authors.forename: Susanne
authors.initials: S
authors.lastname: Kjaergaard
authors.forename: Rebecca A
authors.initials: RA
authors.lastname: Mosig
authors.forename: Mollie
authors.initials: M
authors.lastname: Lobl
authors.forename: Chiara
authors.initials: C
authors.lastname: Martignetti
authors.forename: John A
authors.initials: JA
authors.lastname: Martignetti
authors.forename: Charlotte
authors.initials: C
authors.lastname: Myrup
authors.forename: Marek
authors.initials: M
authors.lastname: Zak
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D018501:Antirheumatic Agents / Q000627:therapeutic use*; D001171:Arthritis, Juvenile / Q000175:diagnosis*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D018450:Disease Progression; D031845:Hajdu-Cheney Syndrome / Q000175:diagnosis* / Q000188:drug therapy; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D020778:Matrix Metalloproteinase 2 / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D020125:Mutation, Missense; D017422:Sequence Analysis, DNA
chemical_list: D018501:Antirheumatic Agents; D020778:Matrix Metalloproteinase 2
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