Nonclassic neurologic features in cryopyrin-associated periodic syndromes
Tracy V Ting1, Lisabeth V Scalzi, Philip J Hashkes
1Section of Pediatric Rheumatology, Department of Rheumatic Diseases, Cleveland Clinic, Cleveland, Ohio 44195, USA.
Abstract:
Neurologic manifestations in early childhood occur in the cryopyrin-associated periodic syndromes, especially in the chronic infantile neurological, cutaneous, and articular syndrome (CINCA) and the Muckle-Wells syndrome. Cryopyrin-associated periodic syndromes are commonly linked to mutations in the cold-induced autoinflammatory syndrome gene CIAS1 (current symbol, NLRP3) on chromosome 1. We describe three children with atypical cryopyrin-associated periodic syndromes, neurologic symptoms, and a Q705K mutation. Cryopyrin-associated periodic syndrome screening should be considered for children with neurologic and other periodic symptoms with elevated inflammatory markers. This syndrome is treatable with anakinra.
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