Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment.

ABSTRACT:

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, laboratory, and neuroimaging features of 15 genetically-proved Middle Eastern cases of biotin-responsive basal ganglia disease. Brain MR imaging was done at the onset of symptoms in all cases and within 2-8 weeks after biotin and thiamine therapy in 14 patients. The MR imaging datasets were analyzed according to lesion location, extent, and distribution.

Results

Brain MR imaging showed

SUBMITTER: Kassem H 

PROVIDER: S-EPMC7966248 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature