Wiskott-Aldrich syndrome with possible congenital Cytomegalovirus infection: A diagnostic dilemma

Natl Med J India. 2021 Jan-Feb;34(1):24-26. doi: 10.4103/0970-258X.323441.

Abstract

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder, characterized by thrombocytopenia, eczema and recurrent infections. We report a 4-month-old boy who presented with respiratory distress, petechiae, organomegaly and eczema. He was admitted to the paediatric intensive care unit because of severe respiratory distress due to Cytomegalovirus (CMV) infection. As peripheral blood smear showed microthrombocytopenia, Sanger gene sequencing was performed, which confirmed the diagnosis of WAS. This rare combination of possible congenital CMV infection in the background of WAS, misled the initial diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Cytomegalovirus Infections* / complications
  • Cytomegalovirus Infections* / diagnosis
  • Humans
  • Infant
  • Male
  • Thrombocytopenia* / diagnosis
  • Wiskott-Aldrich Syndrome Protein
  • Wiskott-Aldrich Syndrome* / diagnosis
  • Wiskott-Aldrich Syndrome* / genetics

Substances

  • Wiskott-Aldrich Syndrome Protein