title: Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome.
abstract: Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive disorder, which is caused by mutations in the SLC19A3 gene. BBGD typically causes (sub)acute episodes with encephalopathy and subsequent neurological deterioration. If untreated, the clinical course may be fatal. Our report on a 6-year-old child with BBGD highlights that the disease is a crucial differential diagnosis of Leigh syndrome. Therefore, biotin and thiamine treatment is recommended for any patient with symmetrical basal ganglia lesions and neurological symptoms until BBGD is excluded. In addition, we exemplify that deformation-field-based morphometry of brain magnetic resonance images constitutes a novel quantitative tool, which might be very useful to monitor disease course and therapeutic effects in neurometabolic disorders.
authors.affiliation: Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Moorenstr. 5, D-40225, Düsseldorf, Germany, felix.distelmaier@med.uni-duesseldorf.de1.
authors.forename: Felix
authors.initials: F
authors.lastname: Distelmaier
authors.forename: Peter
authors.initials: P
authors.lastname: Huppke
authors.forename: Peter
authors.initials: P
authors.lastname: Pieperhoff
authors.forename: Katrin
authors.initials: K
authors.lastname: Amunts
authors.forename: Jörg
authors.initials: J
authors.lastname: Schaper
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
authors.forename: Ertan
authors.initials: E
authors.lastname: Mayatepek
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
authors.forename: Michael
authors.initials: M
authors.lastname: Karenfort