TITLE:
A C1-inhibitor rare mutation: Early diagnosis of hereditary angioedema in a paediatric patient
AUTHORS:
Maria Cristina Maggio, Piero Sammarco, Carmelo Fabiano, Giovanni Corsello
KEYWORDS:
Hereditary Angioedema; C1-Inhibitor Deficiency
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.3 No.1,
March
21,
2013
ABSTRACT: Hereditary angioedema secondary to C1-inhibitor deficiency is a rare autosomal dominant disorder characterized by a deficiency of C1 esterase inhibitor.An eight-year-old girl showed periorbital painless swelling, diagnosed as ethmoiditis. A craniofacial scan did not evidence a paranasal sinus involvement, C1INH levels were undetectable, with low C4 levels: 7.6 mg/dl and C1INH: