title: Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment.
abstract: OBJECTIVE
  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.
  
  
  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 bilateral lesions in the caudate nuclei with complete or partial involvement of the putamen and sparing of the globus pallidus in all cases. In 80%, discrete abnormal signals were observed in the mesencephalon, cerebral cortical-subcortical regions, and thalami. In 53%, when the disease was advanced, patchy deep white matter affection was found. The cerebellum was involved in 13.3%. The signal abnormality of the mesencephalon, cortex, and white matter disappeared after treatment whereas the caudate and putamen necrosis persisted in all patients, including those who became asymptomatic.
  
  
  CONCLUSIONS
  Biotin-responsive basal ganglia disease is a treatable underdiagnosed disease. It should be suspected in pediatric patients with unexplained encephalopathy whose brain MR imaging shows bilateral and symmetric lesions in the caudate heads and putamen, with or without involvement of mesencephalon, thalami, and cortical-subcortical regions, as the therapeutic trial of biotin and thiamine can be lifesaving.
authors.affiliation: From the Department of Radiology (H.K.), Benha University, Benha, Egypt Department of Radiology (H.K.), Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
authors.forename: H
authors.initials: H
authors.lastname: Kassem
authors.affiliation: Department of Radiology (A.W.), Cairo University, Cairo, Egypt a_wafaie@yahoo.com.
authors.forename: A
authors.initials: A
authors.lastname: Wafaie
authors.affiliation: University of Dammam (S.A.), Dammam, Saudi Arabia.
authors.forename: S
authors.initials: S
authors.lastname: Alsuhibani
authors.affiliation: Pediatric Department of the Egyptian National Research Center (T.F.), Giza, Egypt.
authors.forename: T
authors.initials: T
authors.lastname: Farid
mesh_terms: D001480:Basal Ganglia Diseases / Q000188:drug therapy* / Q000473:pathology*; D001710:Biotin / Q000627:therapeutic use*; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D059906:Neuroimaging; D012189:Retrospective Studies; D013831:Thiamine / Q000627:therapeutic use*
chemical_list: D001710:Biotin; D013831:Thiamine