%0 Journal Article
%T Prolonged survival after splenectomy in Wiskott-Aldrich syndrome: a case report
%A Kostas N Syrigos
%A Nektaria Makrilia
%A Jeffrey Neidhart
%A Michael Moutsos
%A Sotirios Tsimpoukis
%A Maria Kiagia
%A Muhammad W Saif
%J Italian Journal of Pediatrics
%D 2011
%I BioMed Central
%R 10.1186/1824-7288-37-42
%X Wiskott-Aldrich syndrome (WAS) is a rare immunodeficiency disorder, which is characterized by recurrent infections, small-platelet thrombocytopenia and eczema. It has been associated with increased risk of autoimmune disorders and malignancy [1]. The syndrome was first described in 1937 by Wiskott in three brothers with congenital thrombocytopenia, eczema, bloody diarrhea and multiple ear infections [2], whereas, in 1954, Aldrich reported that this disorder is associated with X-linked inheritance [3]. WAS has a wide range of clinical phenotypes that correlate with the type of mutation in the WASP gene. The three main clinical phenotypes produced by WASP mutations are classic WAS, X-linked thrombocytopenia and X-linked neutropenia [4]. Clinical manifestations of WAS consist of petechiae, ecchymosis and bloody diarrhea [1]. Recurrent infections are a frequent problem and autoimmune diseases further complicate clinical presentation [4]. Treatment is mainly supportive and includes immunization, intravenous gammaglobulin, corticosteroids, transfusions, prophylactic antibiotics and splenectomy [5]. Matched bone marrow transplant seems to be the only curative therapeutic option [6], whereas gene therapy holds much promise for future use in clinical practice [7]. When a matched donor is not available, the number of treatment options available is small and overall prognosis is poor [6].Splenectomy is used sparingly by WAS treatment centers, mainly because of the potential post-splenectomy complications [8]. We present the case of a patient with WAS with prolonged survival after splenectomy, who is on a tight follow-up program and tightly adheres to the prophylactic regimen. No sign of disease recurrence has been reported nor has any serious complication.Our patient first presented at our department at the age of seven with facial eczema, recurrent pulmonary infections (lasting several weeks) and otitis media. Physical examination revealed a severe eczema and laboratory tests
%K Wiskott-Aldrich syndrome
%K thrombocytopenia
%K splenectomy
%K survival
%K treatment
%U http://www.ijponline.net/content/37/1/42