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Wiskott-Aldrich syndrome in children.
Last reviewed: 07.07.2025
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Sex-linked thrombocytopenia
Thrombocytopenia with a sex-linked inheritance pattern has been found by researchers in several families. The presence of normal numbers of megakaryocytes in the bone marrow suggests that thrombocytopenia is due to a shortened platelet life span caused by an intrinsic defect. Patients respond poorly to corticosteroids, but splenectomy in some cases results in complete remission.
Wiskott-Aldrich syndrome is characterized by eczema, recurrent infections, and thrombocytopenia. Symptoms of Wiskott-Aldrich syndrome appear in the neonatal period or in the first months of life. Most often, children die at an early age. In the neonatal period, bleeding is often represented by melena, later purpura occurs. Thrombocytopenia is associated with a shortened platelet life caused by their internal defect and with impaired production in the bone marrow. Manifestations of the disease are aggravated by recurrent purulent infections, including otitis, pneumonia, and skin lesions. Patients also have reduced resistance to nonbacterial infections, including herpes simplex virus and pneumonia caused by Pneumocystis carinii.
Hematological manifestations of Wiskott-Aldrich syndrome:
- thrombocytopenia (platelet count about 30,000/mm3 );
- anemia (caused by blood loss);
- leukocytosis (caused by infections);
- normal or increased number of megakaryocytes;
- absence of isohemagglutinins, decreased IgM levels, normal or increased IgG and IgA levels;
- in some cases, a defect in cellular immunity.
Treatment of Wiskott-Aldrich syndrome
- Allogeneic bone marrow transplantation, especially in patients with low or discordant WASP protein expression, if possible in the first 5 years of life.
- Splenectomy in severe cases in children over 5 years of age (if bone marrow transplantation is not possible) due to the increased risk of uncontrolled infections after surgery.
- Maintenance courses of IVIG.
- Platelet transfusions for hemorrhagic manifestations.
- The use of corticosteroids has no effect on thrombocytopenia; they are used for eczema.
What tests are needed?
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