Teaching NeuroImages: Biotin-responsive basal ganglia disease
نویسندگان
چکیده
منابع مشابه
Biotin-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 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...
متن کاملTeaching neuroimages: manganese neurotoxicity of the basal ganglia and thalamus.
A 27-year-old man with cholestasis presented with 4 weeks of progressive spastic quadriparesis and hypophonia. MRI revealed T2/fluid-attenuated inversion recovery hyperintensities in the basal ganglia and thalamus (figure 1). He was treated with IV methylprednisolone for acute disseminated encephalomyelitis. His condition worsened. MRI 4 weeks later showed larger symmetric hyperintensities in t...
متن کاملBiotin-responsive basal ganglia disease: neuroimaging features before and after treatment.
BACKGROUND AND PURPOSE Biotin-responsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin. MATERIALS AND METHODS We retrospectively reviewed the clinical, labor...
متن کاملPsychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease
Biotin-thiamine-responsive basal ganglia disease is a devastating autosomal recessive inherited neurological disorder. We conducted a retrospective chart review of all patients with biotin-thiamine-responsive basal ganglia disease who underwent a formal psychological assessment. Six females and 3 males were included. Five patients (56%) had an average IQ, two patients (22%) had mild delay, and ...
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ژورنال
عنوان ژورنال: Neurology
سال: 2016
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000002616