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Cold Induced Sweating Syndrome with Urinary System Anomaly Association
Author(s) -
Salim Aljabari,
Emily Howard,
Todd Bell,
Tetyana L. Vasylyeva
Publication year - 2013
Publication title -
case reports in pediatrics
Language(s) - English
Resource type - Journals
eISSN - 2090-6803
pISSN - 2090-6811
DOI - 10.1155/2013/173890
Subject(s) - medicine , urinary system , cytokine , pediatrics
Mutation in the cytokine receptor-like factor 1 and the cardiotrophin-like cytokine ( CRLF1 or CLCF1 genes) phenotypically presents as cold induced sweating syndrome (CISS), which is a rare autosomal recessive disorder. The syndrome is characterized by paradoxical sweating in cold weather, dysmorphic facial features, musculoskeletal deformities, difficulty in feeding, and unexplained recurrent episodes of high-grade fever. We are presenting the first case of CISS with urinary system anomaly, which might relate to CRLF1/CLCF1 complex role in the embryonal nephrogenesis.

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