case_images: PMC9171136_01
case_images: A detailed pedigree of family was drawn after information from the parents. The available samples were marked as symbol satiric. * represent the available sample for analysis.
case_images: fped-10-862722-g001.jpg
case_images: PMC9171136_01_fped-10-862722-g001.jpg
case_images: F1
case_images: Both parents and other family members were non-symptomatic (Figure 1).
case_images: MRI showing the characteristics of POLR1C related leukodystrophy caused by POLR1C variant. Axial T2-weighted (A,B,D,E) and sagittal T1-weighted (F) images of case at the age of 4 years at the time of MRI.
case_images: fped-10-862722-g002.jpg
case_images: PMC9171136_01_fped-10-862722-g002.jpg
case_images: F2
case_images: Due to the patient's mental status, her physician ordered brain magnetic resonance imaging (MRI), which revealed that the white matter was predominantly involved (Figure 2).
case_images: Chromatogram of Sanger sequence analysis III-1 and I-2 are the normal parents, while IV-1 are the affected member of the family showing a novel homozygous missense c.934T > C (p. S312P) of POLR1C gene.
case_images: fped-10-862722-g003.jpg
case_images: PMC9171136_01_fped-10-862722-g003.jpg
case_images: F3
case_images: Metachromatic leukodystrophy and Pelizaeus-Merzbacher disease were more likely to be differentially diagnosed (Figure 3).