Unraveling a Rare Complication: BCG-associated Brain Abscess in Wiskott–aldrich Syndrome

Abstract

Wiskott–aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections. Live vaccines, such as Bacillus Calmette–Guérin (BCG), routinely administered in tuberculosis-endemic regions, may cause severe complications in undiagnosed patients.

We report a 2-year-old boy with genetically confirmed WAS who developed a rare BCG-related brain abscess. The patient initially presented with neonatal thrombocytopenia and eczema, followed by recurrent respiratory and gastrointestinal infections. Whole exome sequencing identified a pathogenic mutation in the WAS gene. During pre-hematopoietic stem cell transplantation (HSCT) evaluation, brain imaging revealed a large multiloculated right parieto-occipital abscess with significant mass effect. Surgical drainage was performed, and polymerase chain reaction confirmed Mycobacterium bovis (BCG strain).

Antitubercular therapy was initiated. Severe thrombocytopenia complicated management and necessitated splenectomy. Although platelet counts improved and infection was partially controlled, HSCT was postponed due to active infection. The patient subsequently died following a severe COVID-19 infection.

This case highlights the diagnostic and therapeutic challenges of BCG-related brain abscess in patients with WAS and underscores the importance of early genetic diagnosis, avoidance of live vaccines, and timely definitive treatment in primary immunodeficiencies