@inbook{b00ccb002eb94073b6f42379aa779190,
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.",
keywords = "Brain magnetic resonance imaging, Leigh syndrome, SLC19A3 gene, Vasogenic edema, Ventral globus pallidus",
author = "Felix Distelmaier and Peter Huppke and Peter Pieperhoff and Katrin Amunts and J{\"o}rg Schaper and Eva Morava and Ertan Mayatepek and J{\"u}rgen Kohlhase and Michael Karenfort",
note = "Publisher Copyright: {\textcopyright} 2013, SSIEM and Springer-Verlag Berlin Heidelberg.",
year = "2014",
doi = "10.1007/8904_2013_271",
language = "English (US)",
series = "JIMD Reports",
publisher = "Springer",
pages = "53--57",
booktitle = "JIMD Reports",
}