Li Hua, Xu Zheng, Guo Jing, Zhang Peiqi, Dong Xiaoli, Zhao Liming
Department of Neurology, Guangdong Sanjiu Brain Hospital, Guangzhou, China.
Am J Med Genet A. 2025 Apr;197(4):e63938. doi: 10.1002/ajmg.a.63938. Epub 2024 Dec 6.
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.
TANGO2缺乏症常被漏诊，且缺乏最佳治疗策略。一名7岁中国女孩出现癫痫、发育迟缓、神经功能倒退和运动障碍发作。此外，她在最后一次全身性强直阵挛发作后陷入昏迷状态。三联体全外显子组测序揭示了TANGO2基因的复合杂合变异。最终，她在接受维生素B5治疗后临床体征和症状显著改善。TANGO2缺乏症是一种严重的神经退行性疾病，可通过三联体全外显子组测序进行诊断。本报告强调了维生素B5对该疾病的潜在治疗作用，并表明大剂量使用维生素B5治疗TANGO2缺乏症可能是安全的。
