Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome
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SourceJimd Reports, 13, (2014), pp. 53-57
Article / Letter to editor
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Paediatrics - OUD tm 2017
SubjectRadboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
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.
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