POS1466 A CASE REPORT OF IRAQI CHILD WITH MONA SYNDROME AND GALACTOSEMIA

Abstract

BackgroundMONA) 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.ObjectivesTo share this interesting extremely rare presentation and new associationMethodsAn eight year old Iraqi boy with Galactosemia at the 4th month of life presented with 4 years history of fractures of his long and short bones after trivial traumas with progressive painful deformities in hands and feet with limitation motion He has seizures, and Atrial septal defects. Intellect is normal, He had coarse facial features, hypertelorism, gum hypertrophy with high arched palate and hirsutism. Painful subcutaneous nodules involving both palms and soles (Figure 1).Figure 1.ResultsThe immunological, hematological and ultrasound were normal. The X-rays showed osteopenia, decrease in joint space and resorption of phalanges with cortical thinning and expansion of the phalangeal and metacarpal bones was a distinct finding (Figure 1). Genetic study revealed Homozygous MMP2 mutation.ConclusionDiagnosis of MONA Combined with galactosemia was made.References[1]Tuysuz B, Mosig R, Altun G, Sancak S, Glucksman MJ, Martignetti JA. A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects. European journal of human genetics. 2009;17(5):565–72.[2]Castberg FC, Kjaergaard S, Mosig RA, Lobl M, Martignetti C, Martignetti JA, et al. Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review. European journal of pediatrics. 2013;172(12):1657–63.[3]Bhavani GS, Shah H, Shukla A, Gupta N, Gowrishankar K, Rao AP, et al. Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy. Am J Med Genet A. 2016 Feb;170A(2):410–7.[4]L. Kröger et al., “A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy,” Mol. Genet. genomic Med., vol. 7, no. 8, p. e802, 2019.[5]Azzollini J, Rovina D, Gervasini C, Parenti I, Fratoni A, Cubellis MV, et al. Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy. Journal of human genetics. 2014;59(11):631–7.[6]H. Elsebaie, M. A. Mansour, S. M. Elsayed, S. Mahmoud, and T. A. El-Sobky, “Multicentric Osteolysis, Nodulosis, and Arthropathy in Two Unrelated Children with Matrix Metalloproteinase 2 Variants: Genetic-Skeletal Correlations,” 2021.Disclosure of InterestsNone declared