Management

So far, there is no curative therapy available and due to the rarity of the disorder, there is only experience with individual patients. In addition to symptomatic therapy, e.g. as part of drug therapy for possible epilepsy, anti-inflammatory therapy is particularly important to prevent severe and recurrent aseptic autoinflammation. In some cases, a response to cortisone preparations could be observed, whereby the additional administration of methotrexate did not provide any additional benefit in individual cases. Finally, the introduction of Anakinra (2 mg/kg daily) led to an impressive improvement in floppyness and disappearance of a general pain which had been present most likely due to serositis in one patient.