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Published on: June 8, 2017
Balamuthia mandrillaris presenting as central nervous system vasculitis in a young child
Emily Anne Carsello1,2, Katelyn Liston3,4, Brandon Maust3,5
1Department of Pediatrics, University of Washington, Seattle, Washington, USA emily.carsello@seattlechildrens.org.
Abstract:
Balamuthia mandrillaris is a rare and difficult-to-diagnose infection with high mortality. We present the case of an immunocompetent toddler presenting with central nervous system (CNS) vasculitis. He was initially diagnosed with Takayasu arteritis and had an initial period of improvement following immunosuppressive therapy. Subsequently, he had rapid decompensation with diffuse intracranial lesions progressing to severe neurological injury and compassionate extubation. Metagenomic sequencing of the CSF and pathology and PCR from brain biopsy were positive for B. mandrillaris To our knowledge, this is the first case of Balamuthia presenting as a mixed vessel CNS vasculitis and highlights the importance of consideration of this infection in cases of vasculitis, particularly in mixed vessel disease. It further demonstrates the potential use of newer diagnostics, namely CSF metagenomic testing and amoeba PCR, in earlier diagnosis and treatment.
Insights
Balamuthia mandrillaris infection, a rare cause of central nervous system vasculitis, was identified in an immunocompetent child. Advanced diagnostics like metagenomic sequencing aided in its early detection.
Area of Science:
- Neurology
- Infectious Diseases
- Pathology
Background:
- Balamuthia mandrillaris causes rare, severe infections.
- Central nervous system (CNS) vasculitis is challenging to diagnose.
- High mortality associated with Balamuthia infections.
Purpose of the Study:
- To report a unique case of Balamuthia presenting as CNS vasculitis in a child.
- To highlight the diagnostic challenges and potential of novel methods.
- To emphasize Balamuthia as a differential diagnosis in vasculitis cases.
Main Methods:
- Case presentation of an immunocompetent toddler with CNS vasculitis.
- Initial diagnosis and treatment for Takayasu arteritis.
- Advanced diagnostics: CSF metagenomic sequencing, brain biopsy pathology, and PCR for Balamuthia mandrillaris.
Main Results:
- The patient initially improved with immunosuppression for presumed Takayasu arteritis.
- Rapid neurological decline occurred despite treatment.
- Metagenomic sequencing and PCR confirmed Balamuthia mandrillaris infection.
Conclusions:
- Balamuthia mandrillaris can present as mixed-vessel CNS vasculitis.
- Consideration of Balamuthia is crucial in unexplained vasculitis cases.
- Metagenomic sequencing and amoeba PCR offer potential for earlier diagnosis.
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