Clinical and Imaging Presentation of a?Patient with Beta-Propeller Protein-Associated Neurodegeneration, a?Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA)

摘要

Abstract Neurodegeneration with brain iron accumulation (NBIA) is a?heterogeneous group of inherited neurologic disorders with iron accumulation in the basal ganglia, which share magnetic resonance (MR) imaging characteristics, histopathologic and clinical features. According to the affected basal nuclei, clinical features include extrapyramidal movement disorders and varying degrees of intellectual disability status. The most common NBIA subtype is caused by pathogenic variants in PANK2 . The hallmark of MR imaging in patients with PANK2 mutations is an eye-of-the-tiger sign in the globus pallidus. We report a?33-year-old female with a?rare subtype of NBIA, called beta-propeller protein-associated neurodegeneration (BPAN) with a?hitherto unknown missense variant in WDR45 . She presented with BPAN’s particular biphasic course of neurological symptoms and with a?dominant iron accumulation in the midbrain that enclosed a?spotty T2-hyperintensity.