Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.

ABSTRACT:

Background

Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in SLC19A3 gene. The clinical picture includes symptoms of subacute encephalopathy (e.g. confusion, dysphagia, dysarthria, and seizures), which respond very well to early treatment with thiamine and biotin.

Method

A retrospective review of clinical characteristics, magnetic resonance imaging and molecular findings in 3 patients with BTBGD.

Results

The first symptoms in all patients occurred at 12-24 months of age and they had subacute encephalopathy, ataxia and dystonia. The baseline magnetic resonance imaging demonstrated abnormal signal intensity in the basal ganglia with atrophy and necrosis of the basal ga

SUBMITTER: Wesol-Kucharska D 

PROVIDER: S-EPMC8488057 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature