TL Lee, KW Chan, YL Lau

Abstract

This is a case report about an 8-year-old girl misdiagnosed as simple urticaria since birth. She has been given antihistamine and paracetamol for her symptoms but with no improvement. The diagnosis of CINCA syndrome was made clinically and confirmed by gene mutation analysis. This article aims to alert general practitioners to the symptoms of neonatal onset urticaria, headache and arthralgia/arthritis as the diagnostic triad of this syndrome.