EC Paediatrics

Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency disorder characterized by thrombocytopenia (low platelet count), eczema, recurrent infections, and an increased risk of autoimmune disorders and malignancies. This case report discusses a 4-month-old infant suspected of having WAS, detailing the clinical features, diagnostic evaluation, and genetic testing performed.

The patient had a history of bloody diarrhea along with thrombocytopenia and peripheral ecchymosis (bruising). Genetic testing confirmed a pathogenic variant in the Wiskott-Aldrich syndrome gene. Despite receiving supportive treatments, including immunoglobulin transfusions, the patient's condition worsened, leading to a massive cerebral hemorrhage that did not respond to symptomatic treatments.

Managing WAS requires a multidisciplinary approach involving supportive care, immunoglobulin replacement therapy, and allogeneic hematopoietic stem cell transplantation, which is considered a curative option. Additionally, novel targeted therapies, such as gene therapy, are being investigated.

This case highlights the challenges in diagnosing and managing WAS and underscores the importance of specialized medical care for patients with primary immunodeficiency disorders. Heral ecchymosis spots. Genetic testing confirmed a pathogenic variant in the Wiskott-Aldrich syndrome gene. Despite supportive treatment, including immunoglobulin transfusion, the patient's condition worsened, and a massive cerebral hemorrhage occurred, which did not respond to symptomatic treatments. The management of WAS involves a multidisciplinary approach, including supportive care, immunoglobulin replacement therapy, and allogeneic hematopoietic stem cell transplantation as a curative option. Novel targeted therapies, such as gene therapy, are also being explored. The case highlights the challenges in diagnosing and managing WAS and emphasizes the importance of specialized medical care for patients with primary immunodeficiency disorders.

 Keywords: Wiskott-Aldrich Syndrome; X-Linked Immunodeficiency; Thrombocytopenia; The WAS Gene; Immunoglobulin Transfusion

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