Neuropediatrics 2012; 43 - FV13_02
DOI: 10.1055/s-0032-1307064

Multiple sclerosis and periodic fever syndromes: Characterization of clinical symptoms

A Blaschek 1, P Lohse 2, F Heinen 1, W Müller-Felber 1
  • 1Haunersches Kinderspital, Abteilung Pädiatrische Neurologie, München, Germany
  • 2Institut für Laboratoriumsmedizin/Humangenetik, Singen, Germany

Aims: To describe the clinical characteristics of children with MS who have a mutation in TNFRSF1A gene coding for Tumor necrosis factor receptor 1-associated periodic syndrome (TRAPS) and/or in the MEFV gene for familial Mediterranean fever (FMF).

Methods: Sequencing exons 2, 3, 9, 10 in MEFV (in case of heterozygous mutations all

exons were analyzed) and exons 2, 3, 4, 6 in TNFRSF1A.

Results: In 6/25 patients we found a mutation in the analyzed genes. All patients show subtle

symptoms of a periodic fever syndrome. Some of the patients show a very active

MS.

Conclusion: Mutations in genes for FMF or TRAPS can be found in 25% of analyzed patients with juvenile MS. This rate is essentially higher than found in adult MS cases. These mutations could augment the inflammatory response, thereby leading to early manifestation and an active course of the MS.

multiple sclerosis - periodic fever syndromes - TRAPS - FMF