Published in:
Open Access
01-12-2022 | Thrombocytopenia | Case report
Confirmed diagnosis of classic Wiskott–Aldrich syndrome in East Africa: a case report
Authors:
Mpokigwa Kiputa, Obrey Urio, Anna Maghembe, David Kombo, Sajda Dhalla, Victoria Ndembo, Kandi Muze, Mariam Kahwa, Zameer Fakih, Edward Kija
Published in:
Journal of Medical Case Reports
|
Issue 1/2022
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Abstract
Introduction
Wiskott–Aldrich syndrome is a rare X-linked primary immunodeficiency that mostly presents with a classic triad of eczema, microthrombocytopenia, recurrent infections, and increased risk of autoimmunity/malignancies.
Case presentation
We present an 8-month-old African male, born from nonconsanguineous parents and who presented with a history of eczematous skin rash since day 9 of life, with recurrent sinus infections, otitis media, and skin abscesses. An elder male sibling who had similar symptoms passed away during infancy. Investigations were consistent with microthrombocytopenia and significantly raised immunoglobulin E, while immunoglobulin A and immunoglobulin G were moderately elevated with normal immunoglobulin M. Genetic testing revealed the patient to be hemizygous for a pathogenic Wiskott–Aldrich syndrome gene variant (NM_000377.2:c.403C>T). He was managed conservatively with supportive treatment until he died a year later.
Conclusion
Despite Wiskott–Aldrich syndrome being a rare disease, it should be considered as a differential in any male child who presents with microthrombocytopenia and recurrent infections, especially in low-resource settings where genetic testing is not routinely available.