title: Pantothenate kinase-associated neurodegeneration: MR imaging, proton MR spectroscopy, and diffusion MR imaging findings.
abstract: We herein report the case of a 15-year-old male patient with pantothenate kinase-associated neurodegeneration. The classic "eye-of-the-tiger" appearance was initially present on the globus pallidi on T2-weighted MR images and had disappeared by the time of the 10-month follow-up examination. Fluid-attenuated inversion recovery images revealed marked hypointensity in the globus pallidi and dentate nuclei and high signal intensity changes in the deep cerebral white matter. Proton MR spectroscopy revealed markedly decreased N-acetylaspartate in the globus pallidi, associated with decreased N-acetylaspartate and increased myoinositol in the deep cerebral white matter. Diffusion MR images (b=1000 s/mm(2)) were negative (normal appearing) for deep cerebral white matter lesions, whereas apparent diffusion coefficient values were slightly increased (1.08-1.12 x 10(-3) mm(2)/s), compared with the apparent diffusion coefficient values from the normal white matter regions. Apparent diffusion coefficient values in the globus pallidi were lower than those in the unaffected thalamus.
mesh_terms: D000293:Adolescent; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D001921:Brain / Q000473:pathology*; D002529:Cerebellar Nuclei / Q000473:pathology*; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D003937:Diagnosis, Differential; D038524:Diffusion Magnetic Resonance Imaging; D018450:Disease Progression; D004734:Energy Metabolism / Q000502:physiology*; D005500:Follow-Up Studies; D005917:Globus Pallidus / Q000473:pathology*; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007294:Inositol / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009460:Neurologic Examination; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis* / Q000201:enzymology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency*; D012016:Reference Values; D013788:Thalamus / Q000473:pathology
chemical_list: D001224:Aspartic Acid; D007294:Inositol; C000179:N-acetylaspartate; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase; D003401:Creatine; D002794:Choline