POLR3-related Leukodystrophy

Pol III-related leukodystrophy is a recently recognized category of leukodystrophy with characteristic clinical presentation and imaging findings. These cases are diagnosed by the combination of typical clinical presentation, brain magnetic resonance imaging findings, and the presence of biallelic pathogenic mutations in three specific genes. We present the case of a 6-year-old girl who demonstrated the classic clinical and imaging features of this disorder. This case report aims to raise awareness of this disorder so that it is easily recognized in the appropriate setting.