gms | German Medical Science

Background: With our poster we want to present a case of a child with the Blau Syndrome, showing also characteristics of the cryopyrin-associated periodic syndrome (CAPS). Such a case, we believe, would be the first described patient with both diseases.

Methods: Before being admitted to our hospital, the child had for years been treated for polyarthritis, polytenosynovitis, and increased acute phase proteins. Suffering under growth retardation and nocturnal restlessness, the child developed chronic-recurrent flares of symmetrical polyarthritis of the wrists, of the metacarpophalangeal joints, of the proximal interphalangeal joints, and of the knees and ankles with a pronounced surrounding tenosynovitis. Urticaria-like rash also appeared. Laboratory tests showed a strong inflammation. Being treated for seronegative polyarthritis, the child was given corticosteroids, nonsteroidal anti-inflammatory drugs, methotrexate, interleukin 6 (IL-6), and TNF-alpha inhibitors. The treatment was challenging, and the results were mixed.

Results: At the age of 8 years the child was referred to our hospital, where we decided to take a different approach by running tests for autoinflammatory diseases. To our surprise, we discovered two different gene mutations – namely, a R334Q mutation in the NOD2 gene as well a V198M mutation in the NLPR3 gene. These two gene mutations are respectively associated with the Blau Syndrome and the CAPS. Both diseases are inherited in an autosomal-dominant manner and lead to increased inflammation. Our patient shows clinical features of the Blau Syndrome while symptoms such as urticaria-like rash could also speak for the CAPS. As a result, we initiated a treatment with interleukin 1 (IL-1) antagonists since these target both of these diseases.

Conclusion: We have planned this presentation in poster form