Journal
PEDIATRIC RADIOLOGY
Volume 36, Issue 8, Pages 884-886Publisher
SPRINGER
DOI: 10.1007/s00247-006-0205-3
Keywords
dystonia; 'eye-of-the-tiger' sign; PANK2 mutation; pantothenate kinase associated neurodegeneration; MRI; children
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It has been postulated that all patients with pantothenate kinase 2 (PANK2) mutations causing pantothenate-kinase-associated neurodegeneration (PKAN) are associated with the 'eye-of-the-tiger' sign on MRI. We report a pair of siblings who presented with dystonia and who have been found to be homozygous for 104C > A, S35X mutation, confirming the diagnosis of PKAN. They do not have the typical iron deposition in the globi pallida or substantia nigra on MR imaging.
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