Abstract
Background MONA) Multicentric Osteolysis, subcutaneous Nodulosis and Athropathy(is a rare autosomal recessive disorder caused by inactivating mutations in the matrix metallopeptidase 2 (MMP2) gene.
It is manifested by osteolysis of the carpal and tarsal bones, progressive joint contractures, and fibrocollagenous nodules (1,2). In addition, there are reports of gingival hypertrophy, pigmented skin lesions, coarse face, corneal opacities, and cardiac defects (1,3). Because of joint contractures and dysmorphic features and radiological findings, it can be misdiagnosed as juvenile idiopathic arthritis and mucopolysaccharidoses respectively(4). Most affected children are apparently normal at birth with symptoms’ onset usually between six months and six years of age (5); the range is from birth to 11 years (2).To date, 51 individuals have been identified with biallelic pathogenic variants in MMP2 (3,6).Here we report a case of child MONA and galactosemia which is not known before.
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23/5/2022
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