Hattingen Elke, Handke Nikolaus, Cremer Kirsten, Hoffjan Sabine, Kukuk Guido Matthias
Department of Radiology, Neuroradiology, University Hospital of Bonn, Sigmund-Freud Straße 25, 53127, Bonn, Germany.
Department of Radiology, University Hospital of Bonn, Bonn, Germany.
Clin Neuroradiol. 2017 Dec;27(4):481-483. doi: 10.1007/s00062-017-0605-9. Epub 2017 Jun 22.
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.
脑铁沉积神经变性病（NBIA）是一组遗传性神经系统疾病的异质性群体，其特征为基底节铁沉积，具有磁共振（MR）成像特征、组织病理学和临床特征。根据受影响的基底核，临床特征包括锥体外系运动障碍和不同程度的智力残疾状态。最常见的NBIA亚型由PANK2基因的致病变异引起。PANK2突变患者MR成像的标志是苍白球出现虎眼征。我们报告了一名33岁女性，患有NBIA的一种罕见亚型，称为β-螺旋桨蛋白相关神经变性病（BPAN），其WDR45基因存在一个迄今未知的错义变异。她表现出BPAN特有的双相性神经症状病程，且中脑有明显的铁沉积，伴有散在的T2高信号。
