Biotin Encephalopathy and Basal Ganglia Lesions
نویسندگان
چکیده
منابع مشابه
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy
BACKGROUND Biotin-thiamine responsive basal ganglia disease is a severe, but potentially treatable disorder caused by mutations in the SLC19A3 gene. Although the disease is inherited in an autosomal recessive manner, patients with typical phenotypes carrying single heterozygous mutations have been reported. This makes the diagnosis uncertain and may delay treatment. METHODS AND RESULTS In two...
متن کاملBiotin-responsive basal ganglia disease: a novel entity.
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...
متن کاملUremic Encephalopathy with Basal Ganglia Lesions in a Diabetic Predialysis Patient
Syndromes associated with acute bilateral lesions of the basal ganglia in diabetic uremic patients are uncommon, and usually have reversible clinical and imaging findings. Such syndromes are seen almost exclusively in patients with diabetes mellitus and renal failure. Previously reported cases have described diabetic men with uremia on dialysis. Here, we report a case of uremic encephalopathy w...
متن کاملBasal ganglia lesions in subacute sclerosing panencephalitis
The parieto-occipital region of the brain is the most frequently and severely affected in subacute sclerosing panencephalitis (SSPE). The basal ganglia, cerebellum and corpus callosum are less commonly involved. We describe a patient with SSPE confirmed by neuropathology based on brain magnetic resonance imaging showing extensive basal ganglia involvement and no significant involvement of other...
متن کاملBiotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases
BACKGROUND Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive neurometabolic disorder. It is characterized by sub acute encephalopathy with confusion, seizure, dysarthria and dystonia following a history of febrile illness. If left untreated with biotin, the disease can progress to severe quadriparesis and even death. METHOD A retrospective chart review of 18 patients wi...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1998
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-12-8-1