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DOI 10.1186/s13023-021-02155-y

Медицинская библиотека · Orphanet journal of rare diseases · 2022

Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study.

Aviran Neta, Amarilyo Gil, Lakovsky Yaniv, Tal Rotem, Garkaby Jenny, Haviv Rubi, Uziel Yosef, Spielman Shiri, Natour Hamada Mohammad, Herman Yonatan, Scheuerman Oded, Butbul Aviel Yonatan, Levinsky Yoel, Harel Liora

СтатьяМногоцентровое исследованиеПеревод в очереди

Аннотация

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.

Для цитирования: Aviran Neta, Amarilyo Gil, Lakovsky Yaniv, Tal Rotem, Garkaby Jenny, Haviv Rubi, Uziel Yosef, Spielman Shiri, Natour Hamada Mohammad, Herman Yonatan, Scheuerman Oded, Butbul Aviel Yonatan, Levinsky Yoel, Harel Liora. Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study.. Orphanet journal of rare diseases. 2022. DOI: 10.1186/s13023-021-02155-y.

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