Τίτλος:
Wiskott-aldrich syndrome misdiagnosed as immune thrombocytopenic purpura: A case report
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency characterized by various clinical phenotypes. We report the case of a 3-year-old immigrant boy presenting with persistent infant-onset thrombocytopenia treated for refractory immune thrombocytopenic purpura. Sequence analysis confirmed the diagnosis of WAS. The patient responded neither to IV infusions of immunoglobulin (Ig) nor a thrombopoietin receptor agonist and is currently planned for stem cell transplantation. Raised awareness is thus vital of this potentially misdiagnosed and lethal disorder. The diagnosis of WAS should be considered in all males with infant-onset immune thrombocytopenic purpura-like features, especially, if mean platelet volume is decreased (<7 fL) and good increment to platelet transfusions are evident. Copyright © 2017 Wolters Kluwer Health, Inc. All rights reserved.
Συγγραφείς:
Karalexi, M.A.
Tzanoudaki, M.
Fryganas, A.
Gkergki, A.
Spyropoulou, D.
Papadopoulou, A.
Papaevangelou, V.
Petrocheilos, I.
Περιοδικό:
Journal of Pediatric Hematology / Oncology
Εκδότης:
Lippincott Williams and Wilkins
Λέξεις-κλειδιά:
corticosteroid; cyclophosphamide; eltrombopag; immunoglobulin; immunoglobulin A; Wiskott Aldrich syndrome protein, amino acid substitution; anemia; Article; bleeding tendency; case report; child; clinical article; diagnostic error; ecchymosis; flow cytometry; hematopoietic stem cell transplantation; hematuria; human; idiopathic thrombocytopenic purpura; immigrant; Iraqi; male; mean platelet volume; nucleic acid base substitution; petechia; platelet count; preschool child; priority journal; purpura; sequence analysis; thrombocyte transfusion; WAS gene; Wiskott Aldrich syndrome; idiopathic thrombocytopenic purpura; Wiskott Aldrich syndrome, Child, Preschool; Diagnostic Errors; Humans; Male; Purpura, Thrombocytopenic, Idiopathic; Wiskott-Aldrich Syndrome
DOI:
10.1097/MPH.0000000000000949
