Here, we report a 41-year-old woman of POLR3-related leukodystrophy by carrying compound heterozygous pathogenic variants of c.2554A>G (p.M852V) and c.2668G>T (p.V890F) in the <i>POLR3A</i> gene. The gene discussed is POLR3A; the disease is leukodystrophy.