case_images: PMC11047253_01
case_images: The family pedigree of propositus (V,1) shows a fifth-degree consanguinity, both parents are second-degree cousins.
case_images: 10.1177_2050313X241249088-fig1.jpg
case_images: PMC11047253_01_10.1177_2050313X241249088-fig1.jpg
case_images: fig1-2050313X241249088
case_images: We present an 11-year-old female patient with a fifth-degree consanguineous family background (shown in Figure 1), born after an uncomplicated pregnancy.
case_images: T2-weighted brain (a) and T2-weighted GRE magnetic resonance imaging (b) revealed hypointensity with central hyperintensity in both globi pallidi, indicative of the "eye-of-the-tiger" sign.
case_images: 10.1177_2050313X241249088-fig2.jpg
case_images: PMC11047253_01_10.1177_2050313X241249088-fig2.jpg
case_images: fig2-2050313X241249088
case_images: T2-weighted MRI images revealed evidence of iron accumulation, indicated by the "eye of the tiger" sign, displaying a ventral hyperintensity in the globus pallidus (shown in Figure 2).
case_images: Screenshot of IGV software showing BAM file of exome alignment, position chr20:3,908,153, indicating a cytosine to guanine transversion in 100% of the analyzed sequences (165x depth).
case_images: 10.1177_2050313X241249088-fig3.jpg
case_images: PMC11047253_01_10.1177_2050313X241249088-fig3.jpg
case_images: fig3-2050313X241249088
case_images: One likely pathogenic variant was located in chr20:3,908,153C > G (shown in Figure 3) (c.526C > G:p.Arg176Gly) in homozygosity.