Wiskott-Aldrich syndrome, vasculitis and critical aortic dilatation.
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.


CONCLUSIONS
As treatment and prognosis improve, large vessel vasculitis may become an increasingly recognized late complication of this syndrome, which now extends into adult practice.
Johnston
S L
SL
Department of Immunology, Southmead Hospital, Bristol, UK. sljoh@hotmail.com
Unsworth
D J
DJ
Dwight
J F
JF
Kennedy
C T
CT
D000328:Adult; D001022:Aortic Valve Insufficiency / Q000209:etiology* / Q000473:pathology; D001025:Aortitis / Q000209:etiology* / Q000473:pathology; D004108:Dilatation, Pathologic; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D014657:Vasculitis / Q000209:etiology / Q000473:pathology; D014923:Wiskott-Aldrich Syndrome / Q000150:complications*