Abstract
Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder that is characterized by a variable clinical phenotype. Matched donor bone marrow transplantation is currently the only curative therapeutic option. We present the case of a 24-year-old male who was diagnosed at the age of seven with Wiskott-Aldrich syndrome. He did not respond to intravenous gammaglobulin and he experienced recurrent pulmonary infections despite prophylactic antibiotics. The patient had no matched donor. At the age of nine, he was submitted to splenectomy and his platelet count was normalized. Fifteen years later, the patient remains asymptomatic with a normal platelet count. He is still receiving prophylactic antibiotics and no bleeding episodes or septic complications have been reported. This case demonstrates that splenectomy can represent a safe therapeutic option in selected WAS patients, provided that there is a tight follow-up program, patient education and adherence to guidelines regarding post-splenectomy prophylaxis.
Highlights
Wiskott-Aldrich syndrome (WAS) is a rare immunodeficiency disorder, which is characterized by recurrent infections, small-platelet thrombocytopenia and eczema
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]
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
Summary
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]. Physical examination revealed a severe eczema and laboratory tests showed microcytic thrombocytopenia with a platelet count of 42000/mL at diagnosis The patient received multiple courses of intravenous gammaglobulin, steroids, transfusions and prophylactic antibiotics His thrombocytopenia was refractory (platelet count ranging from 8000-78000/mL) and he experienced multiple bleeding episodes. He has experienced no episodes of post-splenectomy bleeding or sepsis. His compliance with the recommended treatment has always been exceptional
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