سندروم سینکا با جهش ژن NLRP3 و مشکلات گزارش نشده کارسینوم تیروئید

عنوان انگليسی

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

خلاصه انگلیسی

Background: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) is the most severe phenotype of cryopyrin-associated periodic syndromes (CAPS) and is caused by a missense mutation in NLRP3 gene. Case presentation: We are reporting a 15-year-old male patient with complaints of chronic arthritis and mental involvement. Further investigations showed a heterozygous c.785G>A missense mutation in Exon 3 of NLRP3 gene and coexisting medullary thyroid carcinoma 2 years later. Conclusions: 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.

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