title: Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.
abstract: We report two siblings of Swedish origin with infantile Biotin and Thiamine Responsive Basal Ganglia Disease (BTRBG).
  
  
  METHODS
  Initial symptoms were in both cases lethargia, with reduced contact and poor feeding from the age of 5 weeks. Magnetic resonance imaging showed altered signal in the basal ganglia, along with grey and white matter abnormalities. The diagnosis BTRBG was not recognized in the first sibling who died at the age of 8 weeks. The second sibling was started on biotin and thiamine immediately upon development of symptoms, leading to clinical improvement and partial reversion of the magnetic resonance imaging findings. Genetic analysis of the SLC19A3 gene identified two mutations, c.74dupT and c.1403delA, carried in compound heterozygous form in both boys, each inherited from one parent.
  
  
  CONCLUSIONS
  The first mutation has previously been described in children with BTRBG, and the second mutation is novel. Although the clinical picture in BTRGB is very severe it is also rather unspecific and the diagnosis may be missed.
  
  
  CONCLUSIONS
  This report highlights the importance of considering biotin and thiamine treatment also in a European infant born to non-consanguineous parents, who presents with symptoms of acute/subacute encephalopathy.
authors.affiliation: Unit of Clinical Pediatrics, Dept of Women's and Children's Health, Karolinska Institutet, Sweden. Electronic address: sofia.ygberg@karolinska.se.
authors.forename: Sofia
authors.initials: S
authors.lastname: Ygberg
authors.affiliation: Neuropediatric Unit, Dept of Women's and Children's Health, Karolinska Institutet, Sweden; Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Sweden.
authors.forename: Karin
authors.initials: K
authors.lastname: Naess
authors.affiliation: Neuropediatric Unit, Dept of Women's and Children's Health, Karolinska Institutet, Sweden.
authors.forename: Mats
authors.initials: M
authors.lastname: Eriksson
authors.affiliation: Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Sweden; Dept of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Sweden.
authors.forename: Henrik
authors.initials: H
authors.lastname: Stranneheim
authors.affiliation: Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Sweden; Dept of Laboratory Medicine, Karolinska Institutet, Sweden.
authors.forename: Nicole
authors.initials: N
authors.lastname: Lesko
authors.affiliation: Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Sweden; Dept of Laboratory Medicine, Karolinska Institutet, Sweden.
authors.forename: Michela
authors.initials: M
authors.lastname: Barbaro
authors.affiliation: Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Sweden; Dept of Laboratory Medicine, Karolinska Institutet, Sweden.
authors.forename: Rolf
authors.initials: R
authors.lastname: Wibom
authors.affiliation: Dept of Neuroradiology, Karolinska University Hospital, Sweden.
authors.forename: Chen
authors.initials: C
authors.lastname: Wang
authors.affiliation: Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Sweden; Dept of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Sweden.
authors.forename: Anna
authors.initials: A
authors.lastname: Wedell
authors.affiliation: Neuropediatric Unit, Dept of Women's and Children's Health, Karolinska Institutet, Sweden.
authors.forename: Ronny
authors.initials: R
authors.lastname: Wickström
mesh_terms: D001480:Basal Ganglia Diseases / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D001710:Biotin / Q000627:therapeutic use*; D003937:Diagnosis, Differential; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D035781:Siblings; D013831:Thiamine / Q000627:therapeutic use*; D014803:Vitamin B Complex / Q000627:therapeutic use*; D044465:White People / Q000235:genetics
chemical_list: D026901:Membrane Transport Proteins; C492291:SLC19A3 protein, human; D014803:Vitamin B Complex; D001710:Biotin; D013831:Thiamine
keywords: Biotin; Encephalopathy; Thiamine