Twenty Year Follow up of a Patient with a New De-Novo NLRP3 Mutation (S595G) and CINCA Syndrome

 

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Abstract

We report on a 22-year-old girl with a history of recurrent febrile episodes, chronic arthritis, urticarial rash, and neurological symptoms including right hemiparesis, internal hydrocephalus, mental retardation, progressive deafness, and visual impairment. Treatment starting at age 20 months, including different combinations of immunosuppressive and antiinflammatory drugs such as corticosteroids and anti-TNFα antibody, was unsuccessful. Four years ago, we found a heterozygous S595G mutation in the NLRP3 gene of this patient. This prompted us to introduce anakinra, which resulted in considerable improvement of the patient's complaints.

Zusammenfassung

Die 22-jährige Patientin hat eine Anamnese mit rezidivierenden Fieberschüben, chronischer Arthritis, urtikariellen Exanthemen und neurologischen Symptomen wie rechtsseitige Hemiparese, interner Hydrozephalus, mentale Retardierung, zunehmende Schwerhörigkeit und Sehstörung. Keine der im Alter von 20 Monaten begonnenen und unterschiedlichen immunsuppressiven und antientzündlichen war erfolgreich. Vor vier Jahren fanden wir eine heterozygote S595G Mutation im NLRP3 Gen dieser Patientin. Auf die dann folgende Behandlung mit Anakinra reagierte die Patientin mit einer dramatischen Besserung ihrer Symptome.

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Correspondence

Dr. Joachim Roesler

University Hospital Pediatrics

Fetscherstraße 74

01307 Dresden

Germany

Phone: +49 351/458 6870

Fax: +49 351/458 6333

Email: joachim.roesler@uniklinikum-dresden.de