A case report of biotin–thiamine-responsive basal ganglia disease in a Saudi child
نویسندگان
چکیده
منابع مشابه
A case report of biotin–thiamine-responsive basal ganglia disease in a Saudi child
BACKGROUND Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a neurometabolic autosomal recessive (AR) disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. The disease is completely reversible if treated early with biotin and thiamine, and can be fatal if left untreated.We herein present our experience with in an extended family stu...
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We describe a novel, biotin-responsive basal ganglia disease in 10 patients. At onset, it appears as a subacute encephalopathy, with confusion, dysarthria and dysphagia with occasional supranuclear facial nerve palsy or external ophthalmoplegia, and progresses to severe cogwheel rigidity, dystonia and quadriparesis. These symptoms disappear within a few days if biotin (5-10 mg/kg/day) is admini...
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ژورنال
عنوان ژورنال: Medicine
سال: 2016
ISSN: 0025-7974
DOI: 10.1097/md.0000000000004819