case_images: PMC11416968_01
case_images: (A) The pedigree of the four-generation family. I, II, III, IV represent first, second, third and fourth generation, respectively. Normal individuals are shown as clear circles (females) and squares (males), affected individuals are shown as filled symbols, asymptomatic individuals with the TTR p.G103R are shown as half-filled symbols. The individuals passed away are shown as slash. The arrow indicates the proband. The individuals who underwent genetic analyses are marked by solid triangle. (B) Sanger sequencing of exons of TTR data shows that a G to C transversion (red circle) resulted in the substitution of glycine-103 by arginine (Gly103Arg) in affected individuals of the family.
case_images: fneur-15-1471131-g001.jpg
case_images: PMC11416968_01_fneur-15-1471131-g001.jpg
case_images: fig1
case_images: The proband (III-5, Figure 1A) was a 48-year-old male, admitted to the hospital due to gradual limb weakness over 3 years, which had worsened in the past month. TTR gene revealed a heterozygous variant c.307G > C (p.G103R) in the proband (III-5) (Figure 1). The proband was subsequently diagnosed with ATTRv and treated with tafamidis (20 mg/day), which stabilizes TTR-tetramer protein structure and reduces TTR-variant protein aggregation. Regrettably, they did not get further examination due to transportation difficulties (Figure 1A).
case_images: (A) Congo-red staining of the abdominal tissues revealed pale red unstructured materials in the superficial dermis and arteriolar wall. (B) The Congo-red positive materials were also observed with "apple-green" under polarized light. (C) Amyloidosis mass spectrometry analysis of abdominal tissues showed that TTR had the highest relative abundance. (D) Fundus examination showed vitreous opacities, cotton wool-like deposits on the retina around the optic disk.
case_images: fneur-15-1471131-g002.jpg
case_images: PMC11416968_01_fneur-15-1471131-g002.jpg
case_images: fig2
case_images: Anterior segment slit-lamp examination and fundus examination after pupillary dilatation revealed vitreous opacities, cotton wool-like deposits on the retina around the optic disk, and old laser spots on the temporal side and below the peripheral retina of the left eye (Figure 2D). Congo-red staining of the abdominal tissues revealed pale red unstructured materials in the superficial dermis and arteriolar wall with "apple-green" under polarized light, indicating amyloid deposits (Figures 2A,B). Amyloidosis mass spectrometry analysis of abdominal tissues showed that TTR had the highest relative abundance (Figure 2C).