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Erschienen in: Indian Journal of Pediatrics 2/2018

04.11.2017 | Clinical Brief

Biotin Thiamin Responsive Basal Ganglia Disease in Siblings

verfasst von: Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Maya Bhat, Naveen Benakappa

Erschienen in: Indian Journal of Pediatrics | Ausgabe 2/2018

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Abstract

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.
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Metadaten
Titel
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings
verfasst von
Vykuntaraju K. Gowda
Varunvenkat M. Srinivasan
Maya Bhat
Naveen Benakappa
Publikationsdatum
04.11.2017
Verlag
Springer India
Erschienen in
Indian Journal of Pediatrics / Ausgabe 2/2018
Print ISSN: 0019-5456
Elektronische ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-017-2471-5

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