A genetic evaluation was necessitated: sequencing of the key exons and exon-intron boundaries of POLR3A using previously reported methods [6], revealed two already known disease-causing mutations, c.272C > T (p.P91L) in exon 3 and c.3014G > A (p.R1005H) in exon 23 which segregated in the parents and proved the diagnosis of 4H leukodystrophy. Here, POLR3A is linked to leukodystrophy.