%0 Journal Article
%T A C1-inhibitor rare mutation: Early diagnosis of hereditary angioedema in a paediatric patient
%A Maria Cristina Maggio
%A Piero Sammarco
%A Carmelo Fabiano
%A Giovanni Corsello
%J Open Journal of Pediatrics
%P 42-44
%@ 2160-8776
%D 2013
%I Scientific Research Publishing
%R 10.4236/ojped.2013.31008
%X <p>
	<span style=\"font-size:12px;\">Hereditary angioedema secondary to C1-inhibitor </span><span style=\"font-size:12px;\">deficiency is a rare autosomal dominant disorder characterized by a deficiency of C1 esterase inhibitor.</span>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: &lt;8.46 mg/dl. The genetic study identified a rare mutation of the C1INH gene. This clinical report is of relieve because paediatric cases described in literature are rare, did not presented a positive family history, and received a diagnosis after many attacks. Furthermore our girl received a prompt diagnosis of HAE at the first attack of angioedema.
</p>
%K Hereditary Angioedema
%K C1-Inhibitor  Deficiency
%U http://www.scirp.org/journal/PaperInformation.aspx?PaperID=28806