PMC8424192_01
Changes in brain MRIs associated with Zellweger syndrome. (A) Brain MRI of patient 1, A T2-weighted FLAIR image shows high signal intensity (PHILIPS MRI). (B) Brain MRI of patient 2 before transplantation. A T2-weighted TIRM shows high signal intensity (SIEMENS MRI). (C) Brain MRI of patient 2 after transplantation. A T2-TIRM shows high signal intensity (SIEMENS MRI). FLAIR, fluid-attenuated inversion recovery; TIRM, turbo inversion recovery magnitude.
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F1
A brain MRI showed patchy, abnormal signal intensities in the bilateral paraventricular white matter (Figure 1B).
PMC8424192_02
Changes in brain MRIs associated with Zellweger syndrome. (A) Brain MRI of patient 1, A T2-weighted FLAIR image shows high signal intensity (PHILIPS MRI). (B) Brain MRI of patient 2 before transplantation. A T2-weighted TIRM shows high signal intensity (SIEMENS MRI). (C) Brain MRI of patient 2 after transplantation. A T2-TIRM shows high signal intensity (SIEMENS MRI). FLAIR, fluid-attenuated inversion recovery; TIRM, turbo inversion recovery magnitude.
fped-09-672187-g0001.jpg
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F1
A brain MRI showed patchy, abnormal signal intensities in the bilateral paraventricular white matter (Figure 1B).
Analysis of ZS inheritance. (A) The family tree shows that the parents are gene carriers, the elder brother died, and the younger brother survived. (B) DNA sequence analyses show two mutation sites (red arrows) before transplantation, in (top) exon6: c.1246_1247 delGA (p.D416) and (bottom) exon19: c.2966T > C (p.I989T). (C) After transplantation, no pathogenic gene mutation was detected in (top) exon 6 or (bottom) exon 19.
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F2
We found the same genetic abnormalities in the two brothers (Figure 2).