case_images: PMC6358370_01
case_images: T2-weighted brain MRI showing the "eye-of-the-tiger" sign. (A) Brain CT scan showed a bilateral calcification of the globus pallidus; (B and C) T2 weighted and FLAIR brain MRI displayed typical "eye of the tiger"; (D) brain SWI showed bilateral symmetrical low signal in the globus pallidus. CT = computed tomography, FLAIR = fluid-attenuated inversion recovery, MRI = magnetic resonance imaging, SWI = susceptibility weighted imaging.
case_images: medi-98-e14122-g001.jpg
case_images: PMC6358370_01_medi-98-e14122-g001.jpg
case_images: F1
case_images: Brain computed tomography scan revealed symmetric calcifications of the bilateral globus pallidus (Fig. 1A). Brain T2-weighted (Fig. 1B) and fluid-attenuated inversion recovery (FLAIR) (Fig. 1C) images showed bilateral symmetrical low signal intensity in the globus pallidus with central hyperintense foci termed as "eye-of-the-tiger" sign. Brain susceptibility weighted imaging (SWI) showed bilateral symmetrical low signal in the globus pallidus which demonstrated brain iron accumulation (Fig. 1D).
case_images: The family with compound heterozygous PANK2 gene mutations. (A) Proband with 2 compound heterozygous mutations (c.1696C > G and c.1160_c.1161insG); (B) father with mutation (c.1696C > G); (C) mother with mutation (c.1160_c.1161insG).
case_images: medi-98-e14122-g002.jpg
case_images: PMC6358370_01_medi-98-e14122-g002.jpg
case_images: F2
case_images: Two compound heterozygous mutations c.1696C > G and c.1160_c.1161insG respectively located on exon 7 and 3 of PANK2 were identified in the proband (Fig. 2).