title: Idiopathic basal ganglia calcifications: an atypical presentation of PKAN.
abstract: BACKGROUND
  We report a patient with pantothenate kinase-associated neurodegeneration presenting as idiopathic basal ganglia calcifications, previously known as Fahr's disease.
  
  
  METHODS
  A teenage girl presented with slowly progressive dystonia. Her brain magnetic resonance imaging scan revealed T1 and T2 hypointensities in both globus pallidi, and no eye-of-the-tiger sign. Computed tomography showed dense globus pallidi calcifications. Metabolic evaluation was negative. The patient was diagnosed with idiopathic basal ganglia calcifications, a poorly understood syndrome of unknown cause. Whole exome sequencing was performed.
  
  
  RESULTS
  The patient was found to have two mutations in the pantothenate kinase 2 (PANK2) gene that have been previously associated with pantothenate kinase-associated neurodegeneration: a paternally inherited p.G521R and maternally inherited p.T528M. No deleterious changes were identified in genes associated with idiopathic basal ganglia calcifications or dystonia.
  
  
  CONCLUSIONS
  Pantothenate kinase-associated neurodegeneration should be considered in patients with idiopathic basal ganglia calcifications, especially when findings are confined to the globus pallidus.
authors: Department of Neurology, University of California, San Francisco, California; Department of Pediatrics, University of California, San Francisco, California. Electronic address: wuy@neuropeds.ucsf.edu.
authors: Yvonne W
authors: YW
authors: Wu
authors: Christopher P
authors: CP
authors: Hess
authors: Nilika S
authors: NS
authors: Singhal
authors: Catherine
authors: C
authors: Groden
authors: Camilo
authors: C
authors: Toro
mesh_terms: D000293:Adolescent; D001480:Basal Ganglia Diseases / Q000150:complications*; D002114:Calcinosis / Q000150:complications*; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics; D019636:Neurodegenerative Diseases / Q000150:complications*; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000150:complications* / Q000235:genetics / Q000473:pathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase
keywords: Fahr disease; PANK2; PKAN; basal ganglia; calcification; dystonia; eye of the tiger; genetics; neurodegeneration; pantothenate kinase