SHM Converge Scientific Abstract ePoster Gallery-Where Did the Platelets Go? A Mysterious Case of Wiskott-Aldrich Syndrome

Pdf Summary

This case describes a child with severe thrombocytopenia and bleeding symptoms, eventually diagnosed with Wiskott-Aldrich syndrome (WAS), a rare X-linked disorder caused by mutations in the WAS gene.<br /><br />The classic features of WAS include thrombocytopenia with bleeding, eczema, immunodeficiency, autoimmune disease, and malignancy risk. In this patient, the bone marrow aspirate was otherwise normal except for decreased megakaryocytes. Laboratory testing showed elevated IgG, IgA, and IgM. Idiopathic thrombocytopenic purpura (ITP) was initially suspected, but it was ruled out because the patient did not respond to IVIG and had a negative platelet antibody panel.<br /><br />Because of ongoing hematemesis, hematochezia, worsening anemia, and high risk of spontaneous bleeding, the patient required multiple platelet transfusions and one blood transfusion. Although the platelet count rose briefly after transfusion, it consistently fell back to critically low levels within a day. This poor and short-lived response, along with the bleeding pattern, prompted a broader differential including hematologic, oncologic, immunologic, and consumptive causes. Other disorders such as coagulation factor deficiencies, von Willebrand disease, and additional inherited platelet disorders were ruled out.<br /><br />Finally, an inherited thrombocytopenia panel confirmed the diagnosis of WAS by identifying a pathogenic WAS gene variant, c.570_574dupGGGTC. The patient was discharged for outpatient follow-up after receiving platelet support.<br /><br />Overall, this case highlights the importance of considering inherited causes of thrombocytopenia when bleeding is severe, platelet transfusions provide only transient benefit, and ITP treatment fails.

Asset Subtitle

Hefei Liu

Meta Tag

Author List Danyon J. Anderson, Dylan Trinh, Harpreet Gill, Hefei Liu, Rowena Punzalan, Ruchika Sharma

Category Clinical Vignettes

Concept Wiskott-Aldrich Syndrome

Concept Thrombocytopenia

Concept WAS Gene

Concept Immunodeficiency

Concept X-linked inheritance

Distinguished Non-Finalist

Presenter Organization Medical College of Wisconsin

Presenting Author Hefei Liu

Track Pediatric

Keywords

Wiskott-Aldrich syndrome

WAS gene mutation

severe thrombocytopenia

bleeding symptoms

platelet transfusion

immune thrombocytopenia

inherited thrombocytopenia

X-linked disorder

megakaryocyte deficiency

pediatric hematology

Wiskott-Aldrich Syndrome

Thrombocytopenia

WAS Gene

Immunodeficiency

X-linked inheritance