J Pediatr Genet 2019; 08(02): 100-108
DOI: 10.1055/s-0038-1676603
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature

Salvatore Savasta
1  Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy
,
Francesco Bassanese
1  Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy
,
Chiara Buschini
1  Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy
,
Thomas Foiadelli
1  Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy
,
Chiara Trabatti
1  Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy
,
Stephanie Efthymiou
2  Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom
,
Vincenzo Salpietro
2  Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom
,
Henry Houlden
2  Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom
,
Annamaria Simoncelli
3  Department of Radiology, IRCCS Policlinico San Matteo Foundation, Pavia, Italy
,
Gian Luigi Marseglia
1  Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy
› Author Affiliations
Further Information

Publication History

08 August 2018

27 October 2018

Publication Date:
18 December 2018 (eFirst)

Abstract

Biotin-thiamine responsive basal ganglia disease (BTRBGD) is an autosomal recessive neurometabolic disorder with poor genotype-phenotype correlation, caused by mutations in the SLC19A3 gene on chromosome 2q36.6. The disease is characterized by three stages: stage 1 is a sub-acute encephalopathy often triggered by febrile illness; stage 2 is an acute encephalopathy with seizures, loss of motor function, developmental regression, dystonia, external ophthalmoplegia, dysphagia, and dysarthria; stage 3 is represented by chronic or slowly progressive encephalopathy. Clinical and biochemical findings, as well as the magnetic resonance imaging (MRI) pattern, resemble those of Leigh's syndrome, so that BTRBGD can be misdiagnosed as a mitochondrial encephalopathy.Here we report the clinical and radiological phenotypes of two siblings diagnosed with BTRBGD in which a novel SLC19A3 mutation (NM_025243.3: c.548C > T; p.Ala183Val) was found by whole exome sequencing (WES) of the family members.