case_images: PMC11577529_01
case_images: Kayser-Fleischer rings in Wilson's Disease. A: Right eye of Case 1; B: Left eye of Case 1 Kayser-Fleischer rings, considered pathognomonic for Wilson's disease, are visible as copper deposits on the superior portion of the corneal periphery upon slit-lamp examination (white arrows). These rings result from copper deposition on Descemet's membrane and typically appear as a brown or golden pigment.
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case_images: PMC11577529_01_99558-g001.jpg
case_images: F1
case_images: At the time of diagnosis, findings were consistent with compensated cirrhosis, he presented neurological disturbances accompanied by bilateral K-F rings (Figure 1).
case_images: PMC11577529_02
case_images: Family pedigree of two siblings affected by Wilson's disease. An arrow indicates the probands in this family. Solid circles and squares represent confirmed cases of Wilson's disease. 'Case 1' and 'Case 2' are labeled beneath the respective individuals. Squares with diagonal lines represent deceased individuals. Consanguinity between parents is represented by the equal sign. A question mark within a symbol indicates unknown genotype or phenotype (not examined). Numbers next to family members represent their current age or age at the time of death.
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case_images: F2
case_images: The affected individuals are illustrated in the family pedigree shown in Figure 2.
case_images: The 'double panda' sign in magnetic resonance imaging of Case 1. A: Fluid-attenuation inversion recovery (FLAIR) magnetic resonance imaging (MRI) scan with an axial section view at the level of the midbrain exhibits the classic 'giant panda' sign (orange arrow), where the mesencephalic tegmentum shows increased T2 signal intensity, highlighting the contrast of the substantia nigra, corresponding to the 'bear ears', as well as the red nuclei, corresponding to the 'bear eyes'; B: Image of the giant panda (Ailuropoda melanoleuca), licensed under creative commons; C: Image of the red panda (Ailurus fulgens), licensed under creative commons; D: FLAIR MRI scan with an axial section at the pons level shows the 'small panda' sign (orange arrow) in the pontine tegmentum, where increased T2 signal intensity allows better differentiation of the medial longitudinal fasciculi and central tegmental tracts, representing the 'eyes of the bear', and the superior angle of the fourth ventricle represents the 'nose of the bear'.
case_images: 99558-g003.jpg
case_images: PMC11577529_02_99558-g003.jpg
case_images: F3
case_images: Fluid-attenuation inversion recovery (FLAIR) MRI with an axial section view at the level of the midbrain exhibited the classic 'giant panda' sign, where the mesencephalic tegmentum shows increased T2 signal intensity, highlighting the contrast of the substantia nigra, corresponding to the 'bear ears', as well as the red nuclei, corresponding to the 'bear eyes' (Figure 3A). Figures 3B and C provide reference images of the giant panda (Ailuropoda melanoleuca) and the red panda (Ailurus fulgens), respectively. In Figure 3D, a FLAIR MRI with an axial section at the pons level shows the 'small panda' sign in the pontine tegmentum, where increased T2 signal intensity allows better differentiation of the medial longitudinal fasciculi and central tegmental tracts, representing the 'eyes of the bear', and the superior angle of the fourth ventricle represents the 'nose of the bear'.
case_images: Encephalic atrophic changes in magnetic resonance imaging of Case 1. A: T2-turbo spin-echo magnetic resonance imaging scan with an axial section view at the level of the anterior commissure. Findings are consistent with multiple diffuse T2 hyperintensities in the lentiform and caudate nuclei. The orange arrow indicates the right lenticular nucleus; B: A magnetic resonance imaging with automated analysis of T1-3D sequence shows pathological findings in the right lentiform nucleus (orange arrow), a part of the basal nuclei. The basal nuclei presented a reduced volume corresponding to less than the 1st percentile for age and sex in our patient.
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case_images: F4
case_images: T2-turbo spin-echo MRI findings were consistent with multiple diffuse T2 hyperintensities in the lentiform and caudate nuclei (Figure 4A). T1-3D sequence showed pathological findings in the right lentiform nucleus, a part of the basal nuclei. The basal nuclei presented a reduced volume corresponding to less than the 1st percentile for age and sex in our patient (Figure 4B).