The missing link between familial Mediterranean fever and recurrent aseptic meningitis

Yusef et  al. reported a case of familial Mediterranean fever (FMF) presenting with recurrent aseptic meningitis (RAM).1 There is no consensus on a possible association between the two conditions, and we have proposed criteria to assess the strength of evidence of case reports.2 In the present case, FMF was diagnosed based on a homozygous E148Q mutation on the MEFV gene. However, the pathogenicity of the E148Q mutation is uncertain, and the diagnosis of FMF requires clinical features that are missing in this case.

Source: Pediatrics and Neonatology - April 2, 2019 Category: Perinatology & Neonatology Authors: J. Capron, G. Grateau, O. Steichen Tags: Letter to the Editor Source Type: research