PMC6358370_01
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.
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F1
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).
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).
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F2
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).