Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive disease characterized by iron accumulation in the brain due to PANK2 gene mutation. The typical "eye-of-the-tiger" sign is the characteristic manifestation of brain magnetic resonance imaging (MRI). We report a Chinese patient with atypical PKAN whose brain MRI scans displayed the typical "eye-of-the-tiger" sign in bilateral pallidum. Genetic analysis identified a compound heterozygous mutation (c. 629-2A > T, c. 1130T > C) for the PANK2 gene. These two mutations were further demonstrated in his parents and other relatives.
Keywords: PANK2 mutations; PKAN disease; “Eye-of-the-tiger” sign.