Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.
Kjersti Eline StigeIvar Otto GjerdeGunnar HougePer Morten KnappskogCharalampos TzoulisPublished in: Clinical case reports (2018)
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare disorder, which is increasingly recognized thanks to next-generation sequencing. Due to a highly variable phenotype, patients may present to pediatrics, neurology, psychiatry, or internal medicine. It is therefore essential that physicians of different specialties are familiar with this severe and debilitating condition.