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A C1-inhibitor rare mutation: Early diagnosis of hereditary angioedema in a paediatric patient

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DOI: 10.4236/ojped.2013.31008    3,884 Downloads   6,042 Views  

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: <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.

Conflicts of Interest

The authors declare no conflicts of interest.

Cite this paper

Maggio, M. , Sammarco, P. , Fabiano, C. and Corsello, G. (2013) A C1-inhibitor rare mutation: Early diagnosis of hereditary angioedema in a paediatric patient. Open Journal of Pediatrics, 3, 42-44. doi: 10.4236/ojped.2013.31008.

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