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Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature.
Savasta, Salvatore; Bassanese, Francesco; Buschini, Chiara; Foiadelli, Thomas; Trabatti, Chiara; Efthymiou, Stephanie; Salpietro, Vincenzo; Houlden, Henry; Simoncelli, Annamaria; Marseglia, Gian Luigi.
Afiliación
  • Savasta S; Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
  • Bassanese F; Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
  • Buschini C; Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
  • Foiadelli T; Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
  • Trabatti C; Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
  • Efthymiou S; Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom.
  • Salpietro V; Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom.
  • Houlden H; Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom.
  • Simoncelli A; Department of Radiology, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
  • Marseglia GL; Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
J Pediatr Genet ; 8(2): 100-108, 2019 Jun.
Article en En | MEDLINE | ID: mdl-31061755
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Pediatr Genet Año: 2019 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Pediatr Genet Año: 2019 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Alemania