title: [Neurodegeneration with brain iron accumulation].
abstract: Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of syndromes. Whereas NBIA1 (panto-thenate kinase-associated neurodegeneration) has been known since 1922, some of the other diseases in the NBIA group have just been known for a few years. We present the case of a 16-year-old man who recently was diagnosed with NBIA4. He had had neurodegenerative symptoms since he was eight years old. The typical MRI findings in the basal ganglia were important in diagnosing NBIA. Furthermore gait analysis and specific genetic testing were performed.
authors.affiliation: Børne- og Ungeafdelingen, Sydvestjysk Sygehus Esbjerg, Finsensgade 35, 6700 Esbjerg. maria.demmel@gmail.com.
authors.forename: Maria
authors.initials: M
authors.lastname: Bertelsen
authors.forename: Lars Kjærsgaard
authors.initials: LK
authors.lastname: Hansen
mesh_terms: D000293:Adolescent; D006801:Humans; D007501:Iron / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000000981:diagnostic imaging / Q000235:genetics*
chemical_list: C568481:C19orf12 protein, human; D024101:Mitochondrial Proteins; D007501:Iron