Abstract：
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a treatable neurometabolic disease caused by variants in SLC19A3. Typical imaging features include symmetrical involvement of the caudate nuclei and putamina.
OBJECTIVE: The study sought to explore classical BTBGD without caudate nucleus involvement, to highlight the importance of recognizing this new pattern early in the disease.
METHODS: Individuals with genetically confirmed BTBGD who harbored the same homozygous variant: NM_025243.4 (SLC19A3): c.1264A > G (p.Thr422Ala) and had atypical neuroimaging were recruited.
RESULTS: Nine patients with BTBGD had atypical neuroimaging findings on the first MRI scan. The median age at symptom onset was 3 years. All patients presented with classical clinical features of subacute encephalopathy, dystonia, ataxia, and seizures. During the acute crisis, MRI revealed bilateral and symmetric involvement of the putamina in all patients; one showed small caudate nuclei involvement. In addition, the thalami, cerebellum, and brain stem were involved in six patients, seven patients, and three patients, respectively. Treatment included a combination of high doses of thiamine and biotin. One patient died; he did not receive any vitamin supplementation. Two patients who were treated late had severe neurological sequelae, including generalized dystonia and quadriplegia. Six patients treated early had good outcomes with minimal sequelae, including mild dystonia and dysarthria. Two patients showed the classical chronic atrophic and necrotic changes already described.
CONCLUSIONS: The early atypical neuroimaging pattern of BTBGD described here, particularly the lack of caudate nucleus involvement, should not dissuade the clinician and radiologist from considering a diagnosis of BTBGD.
OBJECTIVE: The study sought to explore classical BTBGD without caudate nucleus involvement, to highlight the importance of recognizing this new pattern early in the disease.
METHODS: Individuals with genetically confirmed BTBGD who harbored the same homozygous variant: NM_025243.4 (SLC19A3): c.1264A > G (p.Thr422Ala) and had atypical neuroimaging were recruited.
RESULTS: Nine patients with BTBGD had atypical neuroimaging findings on the first MRI scan. The median age at symptom onset was 3 years. All patients presented with classical clinical features of subacute encephalopathy, dystonia, ataxia, and seizures. During the acute crisis, MRI revealed bilateral and symmetric involvement of the putamina in all patients; one showed small caudate nuclei involvement. In addition, the thalami, cerebellum, and brain stem were involved in six patients, seven patients, and three patients, respectively. Treatment included a combination of high doses of thiamine and biotin. One patient died; he did not receive any vitamin supplementation. Two patients who were treated late had severe neurological sequelae, including generalized dystonia and quadriplegia. Six patients treated early had good outcomes with minimal sequelae, including mild dystonia and dysarthria. Two patients showed the classical chronic atrophic and necrotic changes already described.
CONCLUSIONS: The early atypical neuroimaging pattern of BTBGD described here, particularly the lack of caudate nucleus involvement, should not dissuade the clinician and radiologist from considering a diagnosis of BTBGD.
摘要：
背景：生物素-硫胺素反应性基底神经节病（BTBGD）是一种由SLC19A3变异体引起的可治疗的神经代谢疾病。典型的成像特征包括尾状核和putamina的对称受累。
目的：该研究试图探索经典的BTBGD，而不涉及尾状核，强调在疾病早期识别这种新模式的重要性。
方法：具有遗传证实的BTBGD的个体具有相同的纯合变体：NM_025243.4（SLC19A3）：c.1264A>G（p。招募Thr422Ala）并具有非典型神经影像学检查。
结果：9例BTBGD患者在第一次MRI扫描中出现不典型的神经影像学表现。症状发作的中位年龄为3岁。所有患者均表现为亚急性脑病的经典临床特征，肌张力障碍,共济失调,和癫痫发作。在严重的危机期间，MRI显示所有患者都有双侧和对称的putamina受累；一个显示小尾状核受累。此外,thalami,小脑,六名患者的脑干受累，7名患者,三个病人,分别。治疗包括高剂量硫胺素和生物素的组合。一名患者死亡；他没有接受任何维生素补充剂。两名晚期治疗的患者有严重的神经系统后遗症，包括全身性肌张力障碍和四肢瘫痪。早期治疗的6例患者预后良好，后遗症最少，包括轻度肌张力障碍和构音障碍.两名患者表现出已经描述的经典慢性萎缩性和坏死性改变。
结论：这里描述了BTBGD的早期非典型神经影像学模式，特别是缺乏尾状核的参与，不应劝阻临床医生和放射科医生考虑BTBGD的诊断。
目的：该研究试图探索经典的BTBGD，而不涉及尾状核，强调在疾病早期识别这种新模式的重要性。
方法：具有遗传证实的BTBGD的个体具有相同的纯合变体：NM_025243.4（SLC19A3）：c.1264A>G（p。招募Thr422Ala）并具有非典型神经影像学检查。
结果：9例BTBGD患者在第一次MRI扫描中出现不典型的神经影像学表现。症状发作的中位年龄为3岁。所有患者均表现为亚急性脑病的经典临床特征，肌张力障碍,共济失调,和癫痫发作。在严重的危机期间，MRI显示所有患者都有双侧和对称的putamina受累；一个显示小尾状核受累。此外,thalami,小脑,六名患者的脑干受累，7名患者,三个病人,分别。治疗包括高剂量硫胺素和生物素的组合。一名患者死亡；他没有接受任何维生素补充剂。两名晚期治疗的患者有严重的神经系统后遗症，包括全身性肌张力障碍和四肢瘫痪。早期治疗的6例患者预后良好，后遗症最少，包括轻度肌张力障碍和构音障碍.两名患者表现出已经描述的经典慢性萎缩性和坏死性改变。
结论：这里描述了BTBGD的早期非典型神经影像学模式，特别是缺乏尾状核的参与，不应劝阻临床医生和放射科医生考虑BTBGD的诊断。
