Biotin Thiamin Responsive Basal Ganglia Disease in Siblings.

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.

journal_name

Indian J Pediatr

authors

Gowda VK,Srinivasan VM,Bhat M,Benakappa N

doi

10.1007/s12098-017-2471-5

subject

Has Abstract

pub_date

2018-02-01 00:00:00

pages

155-157

issue

2

eissn

0019-5456

issn

0973-7693

pii

10.1007/s12098-017-2471-5

journal_volume

85

pub_type

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