Perthes-Like Disease Masquerading Non-Classical MPS

Abstract Mucopolysaccharidoses (MPS) are inborn errors of metabolism caused by deficient lysosomal enzymes, leading to organomegaly, hip osteonecrosis, coarse facial features, bone deformities, joint stiffness, cardiac and pulmonary symptoms (MPS VI) or hypermobility (MPS IVA). Some patients may present with non-classical forms of the disease in which osteoarticular abnormalities are the initial symptoms of non-classical forms. As orthopedists and surgeons are the specialists most frequently consulted before the diagnosis, it is critical that MPS may be considered as a differential diagnosis for patients with bone dysplasia. Experts in Latin America reviewed medical records focusing on disease onset, first symptoms and the follow-up clinical and surgical outcomes of non-classical MPS VI and IVA patients. All patients displayed orthopedic issues, which worsened over time, followed by cardiac and ophthalmological abnormalities. Our findings enlighten the necessity of including non-classical MPS as possible diagnosis for patients who report osteoarticular abnormalities in absence of inflammation.

Bibliographic Details

Main Authors:	Souza,Carolina F.M., Siqueira,Ana Cecília, Antunes,Natália S., Horovitz,Dafne D.G., Politei,Juan, Lourenço,Charles M., Doriqui,Maria Juliana Rodovalho, Souza,Débora Lima, Galera,Marcial Francis, Abrahão,Leonardo Cury, Matos,Marcos Almeida, Mendes,Pedro Henrique Barros, Magalhães,Tatiana S.P.C
Format:	Digital revista
Language:	English
Published:	Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) 2020
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100305
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