Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?


Kamasak T. , Havali C., Ince H., EYÜBOĞLU İ. , ÇEBİ A. H. , Sahin S. , ...More

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, vol.22, no.6, pp.1139-1149, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 6
  • Publication Date: 2018
  • Doi Number: 10.1016/j.ejpn.2018.06.009
  • Title of Journal : EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Page Numbers: pp.1139-1149
  • Keywords: Biotin-thiamine responsive basal ganglia disease, BTBGD, SLC19A3 mutations, Encephalopathy, SLC19A3

Abstract

Background: Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that typically starts in early childhood. This study describes characteristic clinical and magnetic resonance imaging (MRI) findings of six cases of BTBGD diagnosed with newly identified mutations and genetically confirmed, with very early and different presentations compared to cases in the previous literature.