Biotin Thiamin Responsive Basal Ganglia Disease in Siblings

  • Vykuntaraju K. Gowda
  • Varunvenkat M. Srinivasan
  • Maya Bhat
  • Naveen Benakappa
Clinical Brief

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.

Keywords

Biotin thiamine responsive basal ganglia disease Neuroregression Dystonia SLC19A3 gene 

Notes

Contributions

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.

Compliance with Ethical Standards

Conflict of Interest

None.

Source of Funding

None.

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Copyright information

© Dr. K C Chaudhuri Foundation 2017

Authors and Affiliations

  • Vykuntaraju K. Gowda
    • 1
  • Varunvenkat M. Srinivasan
    • 2
  • Maya Bhat
    • 3
  • Naveen Benakappa
    • 2
  1. 1.Department of Pediatric Neurology, Indira Gandhi Institute of Child HealthAssociate Prof of Pediatric NeurologyBangaloreIndia
  2. 2.Department of Pediatrics, Indira Gandhi Institute of Child HealthPediatric ResidentBangaloreIndia
  3. 3.Department of Neuroradiology, National Institute of Mental Health and NeurosciencesAssociate Prof of NeuroradiolgyBangaloreIndia

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