CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma.

This case showed a recently identified gene variant of NLRP3 in a CINCA patient, as a heterozygous c.785G>A missense mutation in Exon 3 of NLRP3 gene and coexisted medullary thyroid carcinoma as an unreported complication of CINCA.