WDR45 and neurodegeneration with brain iron accumulation 5: We report the neuropathological details of a 51 year old female with a clinical phenotype compatible with BPAN and positive for the hemizygous loss-of-function mutation, p.Leu232Alafs*53 in WDR45. This patient has previously been reported in genetic studies as case HH8 [3, 5].