生物素-硫胺素反应性基底节病的临床特点(附2例报告)

目的 探讨生物素-硫胺素反应性基底节病(BTRBGD)的临床特点及预后,提高对BTRBGD的认识.方法 回顾性分析2例BTRBGD患儿的临床资料,总结其临床特征并进行文献复习.结果 本组2例患儿为同胞姐弟,例1起病早,有喂养困难、运动发育落后、肌张力障碍、痫性发作等表现,例2仅以头痛为主要表现.2例患儿头颅影像学均提示...

Clinical characteristics of biotin-thiamine responsive basal ganglia disease(report of 2 cases)

Objective To explore the clinical characteristics and prognosis of biotin-thiamine responsive basal ganglia disease(BTRBGD),and to improve the understanding of BTRBGD.Methods The clinical data of 2 patients with BTRBGD were retrospectively analyzed,their clinical features were summarized,and the literatures were reviewed.Results Two cases were siblings.Case 1 had an early onset with feeding difficulties,poor motor development,dystonia,seizures and other symptoms,while case 2 had only headache symptoms.Two cases showed symmetrical basal ganglia lesions.Whole-exome sequencing showed SLC19A3 gene compound heterozygous mutation.Treatment with biotin and thiamine was given.Case 1 had no improvement in symptoms,leaving significant dystonia and mild cognitive dysfunction,and case 2 had headache relief.Conclusions As a treatable metabolic disease,early diagnosis and treatment of BTRBGD is very important.For children with unexplained encephalopathy with symmetrical basal ganglia lesions,BTRBGD should be considered in addition to mitochondrial encephalopathy,and should be identified,diagnosed and treated early.