Atypical late presentation of BPAN in a male: A case report

Late‐Onset Beta‐Propeller Protein‐Associated Neurodegeneration: A Case Report

“…The late neurological deterioration in BPAN typically occurs during the mid‐twenties, and, up to date, the oldest reported age of deterioration is 43 years, 6,8 making this the oldest case reported. Skewed X inactivation and mosaicism are thought to contribute to BPAN's clinical heterogeneity, 3,5,6 and we hypothesize that these two factors are a key reason for the relatively mild phenotype and late‐onset neurological deterioration in our patient.…”