In:
Journal of Pediatric Genetics, Georg Thieme Verlag KG, Vol. 08, No. 02 ( 2019-06), p. 100-108
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.
Type of Medium:
Online Resource
ISSN:
2146-4596
,
2146-460X
DOI:
10.1055/s-0038-1676603
Language:
English
Publisher:
Georg Thieme Verlag KG
Publication Date:
2019
detail.hit.zdb_id:
2660767-0
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