Abstract
TANGO2 deficiency disorder is often underdiagnosed and lacks an optimal treatment strategy. A 7-year-old Chinese girl presented with epilepsy, developmental delay, neuroregression, and episodes of dyskinesia. Additionally, she lapsed into a comatose state following her the last generalized tonic-clonic seizure. Trio whole-exome sequencing revealed compound heterozygous variants of the TANGO2 gene. Eventually, her clinical signs and symptoms significantly improved following treatment with vitamin B5. TANGO2 deficiency disorder is a severe neurodegenerative condition that can be diagnosed via trio whole-exome sequencing. This report highlights the potential therapeutic effects of vitamin B5 against this disease and suggests that high-dose vitamin B5 administration may be safe for the treatment of TANGO2 deficiency disorder.
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