■生物素-硫胺素-响应性基底神经节病(BTBGD)是与SLC19A3基因中的致病变体相关的可治疗的神经代谢病症。典型的儿童期发病表型的平均年龄为4岁,从出生到12岁不等。这些病人表现为亚急性脑病,构音障碍,吞咽困难,肌张力障碍,眼外肌麻痹,癫痫发作,四肢瘫痪,甚至死亡。长期而言,MRI显示基底神经节萎缩和坏死。
■一名16岁的女孩出现在肺炎的背景下,缓慢进展的神经症状。这些最初的症状可以自我解决,不用生物素或硫胺素处理,尽管她对自己的写作和记忆有持续的担忧。MRI脑部发现基底节双侧异常信号,涉及尾状核和壳核的头部和身体。全外显子组测序(WES)揭示了SLC19A3基因中可能的致病性变异的纯合性,c.517A>G(p.N173D)。通过生物素和硫胺素治疗,她的残余神经症状得到缓解,除了持续的记忆问题。
■我们描述了一名患者,表现为典型的儿童发病表型的BTBGD。我们的案例强调,BTBGD是一种应被视为所有儿童的潜在诊断的疾病,包括年龄较大的孩子,在疾病的背景下,甚至出现轻微的神经功能缺损。它强调了脑MRI和WES在识别非典型表现患者中的重要性。
UNASSIGNED: Biotin-Thiamine-Responsive Basal Ganglia Disease (BTBGD) is a treatable
neurometabolic condition associated with pathogenic variants in the SLC19A3 gene. The classical childhood-onset phenotype presents at a mean age of 4 years, ranging from birth to 12 years. These patients present with subacute encephalopathy, dysarthria, dysphagia, dystonia, external ophthalmoplegia, seizures, quadriparesis, and even death. Chronically, an MRI brain reveals atrophy and necrosis of the basal ganglia.
UNASSIGNED: A 16-year-old girl presented in the context of pneumonia with gradual-onset, slowly progressive neurological symptoms. These initial symptoms self-resolved, without treatment with biotin or thiamine, though she had persistent concerns with her writing and memory. MRI brain noted bilateral abnormal signals in the basal ganglia, involving the head and body of the caudate nuclei and the putamen. Whole-exome sequencing (WES) revealed homozygosity for a likely pathogenic variant in the SLC19A3 gene, c.517A > G (p.N173D). Her residual neurological symptoms resolved with biotin and thiamine treatment, with the exception of ongoing memory concerns.
UNASSIGNED: We describe a patient presenting with an atypical form of the classical childhood-onset phenotype of BTBGD. Our case emphasizes that BTBGD is a condition that should be considered as a potential diagnosis in all children, including older children, presenting with the new onset of even minor neurological deficits in the context of illness. It highlights the importance of brain MRI and WES in identifying patients with atypical presentations.