Biotin Thiamin Responsive Basal Ganglia Disease in Siblings
Biotin Thiamine responsive Basal Ganglia Disease (BTBGD) is a rare treatable autosomal recessive metabolic disorder caused by mutations in SLC19A3 gene. It usually presents with encephalopathy and dystonia; if not treated, can progress to quadriparesis and death. Two Indian siblings born to a consanguineous marriage presented with regression of milestones, epilepsy and dystonia. Neuroimaging showed signal changes in basal ganglia and thalami. Genetic testing showed a homozygous missense substitution p.Gly23Val (c.68G > T) in exon 2 of the SLC19A3 gene. Thus to conclude, any child who presents with neuroregression, epilepsy and dystonia in the background of basal ganglia changes on neuroimaging, a possibility of biotin thiamine responsive basal ganglia disease should be considered.
KeywordsBiotin thiamine responsive basal ganglia disease Neuroregression Dystonia SLC19A3 gene
VR: Revised and approved the manuscript for important intellectual content and will act as guarantor of the paper; VS: Diagnosis, management and writing the manuscript; MB: Conducted laboratory tests and analyzed the data; NB: Supervision of the work and revision of manuscript.
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