Perthes-Like Disease Masquerading Non-Classical MPS
J. inborn errors metab. screen
;
8: e20200003, 2020. tab, graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1135001
ABSTRACT
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.
Full text:
Available
Index:
LILACS (Americas)
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2020
Type:
Article
Affiliation country:
Argentina
/
Brazil
Institution/Affiliation country:
Biomarin Pharmaceutical Ltda./BR
/
Centro Universitário Estácio de Ribeirão Preto/BR
/
Centro de Referência em Erros Inatos do Metabolismo/BR
/
Fundación para el Estudio de Enfermedades Neurometabólicas/AR
/
Hospital Ortopédico BH/BR
/
Hospital de Clínicas de Porto Alegre/BR
/
Instituto Fernandes Figueira/BR
/
Instituto de Medicina Integral Professor Fernando Figueira/BR
/
Serviço de Referência em Triagem Neonatal do Maranhão/BR
/
Unidade Básica de Saúde Iraci Lula Mendes/BR
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