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Wiskott‐Aldrich syndrome, vasculitis and critical aortic dilatation
Author(s) -
Johnston SL,
Unsworth DJ,
Dwight JF,
Kennedy CTC
Publication year - 2001
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2001.tb01588.x
Subject(s) - medicine , wiskott–aldrich syndrome , aortitis , vasculitis , regurgitation (circulation) , splenectomy , complication , surgery , aorta , disease , biochemistry , chemistry , spleen , gene
Wiskott‐Aldrich syndrome is a rare X‐linked disorder, comprising the triad eczema, thrombocytopenia and progressive immunodeficiency. The prognosis has been poor in the past but is now improving with therapeutic options including splenectomy and bone marrow transplantation. We report the case of a 21‐year‐old male with an established diagnosis of Wiskott‐Aldrich syndrome, who developed aortic root dilatation with severe aortic regurgitation requiring aortic valve and root replacement. Histology confirmed a destructive, full‐thickness, chronic aortitis. Conclusion . As treatment and prognosis improve, large vessel vasculitis may become an increasingly recognized late complication of this syndrome, which now extends into adult practice.