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1.
Harefuah ; 163(4): 263-265, 2024 Apr.
Artigo em Hebraico | MEDLINE | ID: mdl-38616639

RESUMO

INTRODUCTION: THE 12TH CONGRESS OF THE INTERNATIONAL SOCIETY OF SYSTEMIC AUTOINFLAMMATORY DISEASES (ISSAID) HELD ON 15-18 MAY 2023, TORONTO, CANADA.


Assuntos
Doenças Hereditárias Autoinflamatórias , Humanos , Canadá , Síndrome , Doenças Hereditárias Autoinflamatórias/diagnóstico , Doenças Hereditárias Autoinflamatórias/terapia
2.
Orphanet J Rare Dis ; 17(1): 15, 2022 01 10.
Artigo em Inglês | MEDLINE | ID: mdl-35012585

RESUMO

BACKGROUND: Protracted febrile myalgia syndrome (PFMS) is a rare complication of Familial Mediterranean fever (FMF). The diagnosis is based on clinical symptoms and is often challenging, especially when PFMS is the initial manifestation of FMF. The aim of this report was to describe the magnetic resonance imaging (MRI) findings in pediatric patients with PFMS. RESULTS: There were three girls and two boys ranging in age from 6 months to 16 years, all of Mediterranean ancestry. Three had high-grade fever, and all had elevated inflammatory markers. MRI of the extremities yielded findings suggestive of myositis, which together with the clinical picture, normal CPK levels, and supporting family history of FMF, suggested the diagnosis of PFMS. Out of most common MEFV mutations tested, one patient was homozygous for M694V mutation, three were heterozygous for M694V mutation, and one was compound heterozygous for the M694V and V726A mutations. CONCLUSIONS: MRI may serve as an auxiliary diagnostic tool in PFMS.


Assuntos
Febre Familiar do Mediterrâneo , Mialgia , Criança , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/genética , Feminino , Humanos , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Masculino , Mutação/genética , Mialgia/complicações , Pirina/genética , Estudos Retrospectivos
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