AB1448 BISPHOSPHONATES IN (MONA) SPECTRUM DISORDER: TWO CASE REPORTS

Background Multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder is a rare inherited progressive skeletal caused by mutations in the matrix metalloproteinase 2 (MMP2) gene. It characterized multiple peripheral wide metacarpals, osteoporosis, joint contractures, short stature, subcutaneous nodules as well coarse face, skin lesions/hirsutism ocular cardiac manifestations. The diagnosis based on typical clinical features together with normal laboratory findings, which allow this disease to be distinguished from other syndromes, including fibrotic, rheumatic lysosomal diseases. Treatment options are limited. Objectives Bisphosphonates may an alternative therapeutic approach. Methods We present successful bisphosphonate therapy two affected sisters, A.N, ten-year-old A.I, seven-year-old, presented history of fractures their long bones after trivial traumas painful deformities hands feet limitation motion. They were treated bisphosphonates (intravenous zoledronate every 6 months). following outcome variables assessed: pain, range motion, internal medical problems neurocognitive function. Results Skeletal pain was reduced soon initiation therapy. Range motion did not significantly improve. Neurocognitive development normal. No further low-impact occurred starting Although nature progressive, they still able walk use for writing. Conclusion Bisphosphonate effective especially controlling reducing MONA disorder. Early treatment seems particularly important order achieve best possible outcome. Reference [1] Pichler, K. et al. multicentric – Sci. Rep. 6, 34017; doi: 10.1038/srep34017 (2016) Acknowledgements: NIL. Disclosure Interests None Declared.