Nonclassic neurologic features in cryopyrin-associated periodic syndromes.
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.
Ting
Tracy V
TV
Section of Pediatric Rheumatology, Department of Rheumatic Diseases, Cleveland Clinic, Cleveland, Ohio 44195, USA.
Scalzi
Lisabeth V
LV
Hashkes
Philip J
PJ
D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007249:Inflammation / Q000150:complications* / Q000235:genetics* / Q000628:therapy; D008297:Male; D009154:Mutation / Q000235:genetics; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D009422:Nervous System Diseases / Q000209:etiology*; D010507:Periodicity; D013577:Syndrome
D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human