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BMJ Case Reports 2018; doi:10.1136/bcr-2018-225123
  • Unusual association of diseases/symptoms
  • CASE REPORT

A novel mutation in Wiskott-Aldrich gene manifesting as macrothrombocytopenia and neutropenia

  1. Prerna Mewawalla4
  1. 1Department of Internal Medicine, Allegheny General Hospital-Western Pennsylvania Hospital Medical Education Consortium, Pittsburgh, Pennsylvania, USA
  2. 2Department of Hematology-Oncology, Allegheny General Hospital-Western Pennsylvania Hospital Medical Education Consortium, Pittsburgh, Pennsylvania, USA
  3. 3Department of Internal Medicine, Allegheny General Hospital-Western Pennsylvania Hospital Medical Education Consortium, Pittsburgh, Pennsylvania, USA
  4. 4Department of Hematology-Oncology, Allegheny General Hospital-Western Pennsylvania Hospital Medical Education Consortium, Pittsburgh, Pennsylvania, USA
  1. Correspondence to Dr Mais Arwani, dr.arwani{at}gmail.com, mais_arwani{at}yahoo.com
  • Accepted 20 June 2018
  • Published 10 July 2018

Summary

Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder, described as a clinical triad of microthrombocytopenia, eczema and recurrent infections. Different mutations in WAS gene have been identified, resulting in various phenotypes and a broad range of disease severity, ranging from classic WAS to X-linked thrombocytopenia and X-linked neutropenia. WAS in some cases can be fatal without haematopoietic stem cell transplantation early in life. In this particular case, we present a novel mutation with a unique presentation. An 18-year-old man incidentally found to have macrothrombocytopenia and neutropenia at 16 years of age later found to be hemizygous for c. 869T>C (p.Ile290Thr) mutation in WAS gene. The late presentation, absence of other manifestations of WAS and presence of macrothrombocytopenia, rather than microthrombocytopenia, which is usually a characteristic finding in WAS, misled the initial diagnosis. On review of literature, this mutation has not been reported as causing WAS.

Footnotes

  • Contributors MA evaluated the patient, did chart review, collected and analysed data, did literature search and reported the work described in the article. DL did chart review, literature search, reviewed and edited the article. AH did literature search, reviewed and edited the article. PM evaluated the patient, did chart review, reviewed and edited the article.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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