A 3-year-old boy is brought to the family physician by his parents. They are concerned that he has had multiple nosebleeds in the last 6 months and is always sick compared to other children. During this time period they have also noticed the formation of multiple bruises on his extremities and dry-itching skin on his hands, feet and elbow. On physical exam the physician notes moderate splenomegaly. What is the most likely diagnosis in this child?
1.X-linked Agammaglobulinemia
2.Severe combined immunodefiency
3.Wiskott-Aldrich syndrome
4.Primary Eczema
5.Hyperimmunoglobulin E syndrome
sol:
This boy most likely has the diagnosis of Wiskott-Aldrich syndrome. He is presenting with the classic symptoms of eczema, pupura secondary to thrombocytopenia, epistaxis and splenomegaly.
Wiskott-Aldrich syndrome is a X-linked recessive disorder that often presents early in childhood in a fair male with recurrent bacterial infections, eczema, purpura, epistaxis and splenomegaly. Epistaxis and purpura occur secondary the thrombocytopenia that is associated with this disorder. The diagnosis is typically made using the peripheral blood smear and low immunoglobulin level. In most cases IgM levels are low, IgE and IgA levels are elevated. The mutated gene (WASp) has been identified on the short arm of the X chromosome.
Reust discusses the diagnosis of children with primary immunodeficiencies. A family history of immunodeficiency is the greatest indicator of making the proper diagnosis. These patients often present with recurrent, unusual, bacterial or fungal infections. The first step in diagnosis is a complete blood count and peripheral smear.
Illustration A displays the characteristic appearance of eczema seen in these patients.
Illustration B displays the location of the WASp gene on the X chromosome.