PMC9171136_01
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.
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F1
Both parents and other family members were non-symptomatic (Figure 1).
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.
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F2
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).
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.
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F3
Metachromatic leukodystrophy and Pelizaeus-Merzbacher disease were more likely to be differentially diagnosed (Figure 3).