HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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

AbstractUNLABELLED:
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.
AuthorsFilip Christian Castberg, Susanne Kjaergaard, Rebecca A Mosig, Mollie Lobl, Chiara Martignetti, John A Martignetti, Charlotte Myrup, Marek Zak
JournalEuropean journal of pediatrics (Eur J Pediatr) Vol. 172 Issue 12 Pg. 1657-63 (Dec 2013) ISSN: 1432-1076 [Electronic] Germany
PMID23900523 (Publication Type: Case Reports, Journal Article, Review)
Chemical References
  • Antirheumatic Agents
  • Matrix Metalloproteinase 2
Topics
  • Abnormalities, Multiple (diagnosis, genetics)
  • Antirheumatic Agents (therapeutic use)
  • Arthritis, Juvenile (diagnosis)
  • Child, Preschool
  • Diagnosis, Differential
  • Disease Progression
  • Hajdu-Cheney Syndrome (diagnosis, drug therapy)
  • Heart Defects, Congenital (diagnosis, genetics)
  • Humans
  • Male
  • Matrix Metalloproteinase 2 (analysis, deficiency, genetics)
  • Mutation, Missense
  • Sequence Analysis, DNA

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: