2025年1月4日 · Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare neurometabolic syndrome caused by defective thiamine transporter 2 (THTR2) activity due to mutations in the solute carrier family 19 member 3 gene (SLC19A3).

Biotin-responsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin.

2013年1月15日 · The brain MRI typically showed symmetric and bilateral lesions in the caudate nucleus and putamen, infra- and supratentorial brain cortex, and in the brainstem. Vasogenic edema characterized the acute crises as demonstrated by diffusion-weighted imaging/apparent diffusion coefficient MRI.

2013年11月21日 · In its chronic stage, BTBGD shares clinical features with several conditions including Wilson disease, juvenile Huntington disease, and DYT1 early-onset isolated dystonia; however, BTBGD can be differentiated by its acute/subacute presentation and MRI findings.

In addition to the clinical manifestations, characteristic neuroradiological findings of bilateral caudate injury with partial or complete involvement of putamen on brain magnetic resonance imaging (MRI) can be suggestive of BTBGD .

2012年12月26日 · The brain MRI typically showed symmetric and bilateral lesions in the caudate nucleus and putamen, infra- and supratentorial brain cortex, and in the brainstem. Vasogenic edema characterized the acute crises as demonstrated by diffusion-weighted imaging/apparent diffusion coefficient MRI.

Brain magnetic resonance imaging (MRI) typically demonstrates bilateral hyperintensity of caudate nucleus and putamen on T2-weighted sequences. In addition, especially during acute neurometabolic crisis, diffuse cortical and subcortical changes are characteristic, which are thought to be caused by vasogenic edema (Tabarki et al. 2013 ).

2005年5月3日 · Magnetic resonance imaging (MRI) examination of patients with BBGD revealed specific bilateral necrosis in the head of the caudate nucleus and in the putamen. However, results of tests to uncover evidence of infection, storage or mitochondrial diseases, or toxicological damage were all negative.

Ozand et al.1 demonstrated that the MRI pattern of patients with BBGD is bilateral necrosis in the central part of the caudate heads and part or all of the putamen; our study confirms this, and adds important additional diagnostic information of BBGD in a patient presenting with acute-subacute encephalopathy.

2012年12月26日 · The magnetic resonance imaging (MRI) of the brain revealed T2-hyperintensities in the basal ganglia, thalamus, cortical, subcortical regions with striatal necrosis suggestive of BTBGD that was ...