AI Article Synopsis
- BTRBGD is a rare, treatable neurometabolic disorder caused by mutations in the SLC19A3 gene, leading to progressive brain damage if untreated.
- A case involving a 2-year-old boy with fever and severe brain symptoms was linked to a SARS-CoV-2 infection and identified as BTRBGD through genetic testing.
- Clinicians should be aware of BTRBGD in patients with acute encephalopathy and specific MRI findings, even with confirmed viral infections, as timely treatment is crucial.
Article Abstract
Background: Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine. BTRBGD is caused by mutations in the SLC19A3 gene on chromosome 2q36.6, encoding human thiamine transporter 2 (hTHTR2). Episodes of BTRBGD are often triggered by febrile illness.
Case Report: The patient was 2 years 10 months old male child presented with fever and progressive acute encephalopathy associated with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) virus infection. MRI revealed bilateral symmetrical high signal involving both basal ganglia and medial thalami which is swollen with central necrosis, initially diagnosed as acute necrotizing encephalomyelitis with increased severity. Genetic analysis revealed BTRBGD.
Conclusion: BTRBGD requires high index of suspicion in any patient presenting with acute encephalopathy, characteristic MRI findings (that are difficult to differentiate from necrotizing encephalopathy), regardless of the existence of a proven viral infection.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8696467 | PMC |
| http://dx.doi.org/10.1016/j.braindev.2021.12.003 | DOI Listing |
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