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., ...Daha Fazla

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.22, sa.6, ss.1139-1149, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 22 Sayı: 6
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.ejpn.2018.06.009
  • Dergi Adı: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1139-1149
  • Anahtar Kelimeler: Biotin-thiamine responsive basal ganglia disease, BTBGD, SLC19A3 mutations, Encephalopathy, SLC19A3
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

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.