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

Salvatore Savasta; Francesco Bassanese; Chiara Buschini; Thomas Foiadelli; Chiara Trabatti; Stephanie Efthymiou; Vincenzo Salpietro; Henry Houlden; Annamaria Simoncelli; Gian Luigi Marseglia

doi:10.1055/s-0038-1676603

Journal of Pediatric Genetics, Inhaltsverzeichnis

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

Authors

Salvatore Savasta

¹Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy
Francesco Bassanese

¹Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy
Chiara Buschini

¹Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy
Thomas Foiadelli

¹Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy
Chiara Trabatti

¹Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy
Stephanie Efthymiou

²Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom
Vincenzo Salpietro

²Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom
Henry Houlden

²Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom
Annamaria Simoncelli

³Department of Radiology, IRCCS Policlinico San Matteo Foundation, Pavia, Italy
Gian Luigi Marseglia

¹Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy

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.

Keywords

biotin-thiamine responsive basal ganglia disease - biotin - thiamine - encephalopathy - Leigh's syndrome

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Referenzen

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