Russo Camilla, Ardissone Anna, Freri Elena, Gasperini Serena, Moscatelli Marco, Zorzi Giovanna, Panteghini Celeste, Castellotti Barbara, Garavaglia Barbara, Nardocci Nardo, Chiapparini Luisa
Department of Advanced Biomedical Sciences "Federico II" University of Naples Naples Italy.
Department of Paediatric Neuroscience Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy.
Mov Disord Clin Pract. 2018 Nov 9;6(1):51-56. doi: 10.1002/mdc3.12693. eCollection 2019 Jan.
Mutations in cause β-propeller protein-associated neurodegeneration (BPAN), a type of neurodegeneration with brain iron accumulation (NBIA). We reviewed clinical and MRI findings in 4 patients with de novo mutations.
Psychomotor delay and movement disorders were present in all cases; early-onset epileptic encephalopathy was present in 3. In all cases, first MRI showed: prominent bilateral SN enlargement, bilateral dentate nuclei T2-hyperintensity, and corpus callosum thinning. Iron deposition in the SN and globus pallidus (GP) only became evident later. Diffuse cerebral atrophy was present in 3 cases.
In this series, SN swelling and dentate nucleus T2 hyperintensity were early signs of BPAN, later followed by progressive iron deposition in the SN and GP. When clinical suspicion is raised, MRI is crucial for identifying early features suggesting this type of NBIA.
基因的突变会导致β-螺旋桨蛋白相关神经退行性变（BPAN），这是一种伴有脑铁沉积的神经退行性变（NBIA）。我们回顾了4例新发 基因突变患者的临床和MRI表现。
所有病例均有精神运动发育迟缓及运动障碍；3例有早发性癫痫性脑病。所有病例首次MRI表现为：双侧黑质明显增大，双侧齿状核T2高信号，胼胝体变薄。黑质和苍白球的铁沉积后来才变得明显。3例有弥漫性脑萎缩。
在本系列病例中，黑质肿胀和齿状核T2高信号是BPAN的早期征象，随后黑质和苍白球会进行性铁沉积。当临床产生怀疑时，MRI对于识别提示此类NBIA的早期特征至关重要。
