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Balamuthia mandrillaris encephalitis in a child: case report and literature review
Zhaoshi Yi1, Jianmin Zhong1, Huaping Wu1
1Department of Pediatric Neurology, Jiangxi Children's Hospital&The Affiliated Children's Hospital of Nanchang University, Nanchang, China.
Abstract:
Balamuthia mandrillaris encephalitis is a rare disease with high mortality in the children. Due to the lack of specificity in clinical manifestations, laboratory tests, and neuroimaging, the diagnosis of the disease is difficult, especially the diagnosis of etiology. Currently, the evidence shows that the diagnosis of the disease depends on local brain biopsy or autopsy, and it is difficult to detect the pathogens by traditional etiological detection methods in blood and cerebrospinal fluid. We report a 9-year-old Chinese girl with B. mandrillaris encephalitis who was diagnosed with metagenomic next-generation sequencing (mNGS). The technology of mNGS can provide rapid, early etiological diagnosis without the need for a local brain biopsy, which can buy time for the early treatment of patients. We also provide a comprehensive literature review on this disease.
Insights
Balamuthia mandrillaris encephalitis, a rare and fatal childhood disease, is difficult to diagnose. Metagenomic next-generation sequencing (mNGS) offers a promising solution for early etiological diagnosis.
Area of Science:
- Neurology
- Infectious Diseases
- Genomics
Background:
- Balamuthia mandrillaris encephalitis is a rare, highly fatal pediatric neurological disease.
- Diagnosis is challenging due to non-specific clinical, laboratory, and imaging findings.
- Traditional etiological detection in blood and CSF is often unsuccessful, necessitating invasive biopsies.
Observation:
- A case of a 9-year-old Chinese girl with Balamuthia mandrillaris encephalitis is presented.
- Metagenomic next-generation sequencing (mNGS) was utilized for diagnosis.
- The study includes a comprehensive literature review of the disease.
Findings:
- Metagenomic next-generation sequencing (mNGS) enabled rapid and early etiological diagnosis.
- This diagnostic approach avoided the need for invasive brain biopsy.
- Early diagnosis facilitated timely therapeutic intervention.
Implications:
- mNGS offers a non-invasive method for early diagnosis of Balamuthia mandrillaris encephalitis.
- This technology can significantly improve patient outcomes by enabling prompt treatment.
- The findings highlight the potential of advanced sequencing techniques in diagnosing rare pediatric neurological infections.
