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.
|Original language||English (US)|
|Number of pages||4|
|State||Published - May 1 2007|
All Science Journal Classification (ASJC) codes
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience