Department of Neurology, University of California, San Francisco, California; Department of Pediatrics, University of California, San Francisco, California.
Pediatr Neurol. 2013 Nov;49(5):351-4. doi: 10.1016/j.pediatrneurol.2013.06.021. Epub 2013 Aug 19.
We report a patient with pantothenate kinase-associated neurodegeneration presenting as idiopathic basal ganglia calcifications, previously known as Fahr's disease.
A teenage girl presented with slowly progressive dystonia. Her brain magnetic resonance imaging scan revealed T1 and T2 hypointensities in both globus pallidi, and no eye-of-the-tiger sign. Computed tomography showed dense globus pallidi calcifications. Metabolic evaluation was negative. The patient was diagnosed with idiopathic basal ganglia calcifications, a poorly understood syndrome of unknown cause. Whole exome sequencing was performed.
The patient was found to have two mutations in the pantothenate kinase 2 (PANK2) gene that have been previously associated with pantothenate kinase-associated neurodegeneration: a paternally inherited p.G521R and maternally inherited p.T528M. No deleterious changes were identified in genes associated with idiopathic basal ganglia calcifications or dystonia.
Pantothenate kinase-associated neurodegeneration should be considered in patients with idiopathic basal ganglia calcifications, especially when findings are confined to the globus pallidus.
我们报告了一例泛酸激酶相关神经退行性变患者，其表现为特发性基底节钙化，以前称为 Fahr 病。
一名十几岁的女孩出现进行性肌张力障碍。她的脑部磁共振成像扫描显示双侧苍白球 T1 和 T2 信号强度降低，无“虎眼征”。计算机断层扫描显示苍白球钙化密度高。代谢评估为阴性。患者被诊断为特发性基底节钙化，这是一种病因不明的不明原因综合征。进行了全外显子组测序。
该患者发现有两个先前与泛酸激酶相关神经退行性变相关的 pantothenate kinase 2 (PANK2) 基因突变：一个来自父亲的 p.G521R 和一个来自母亲的 p.T528M。未在与特发性基底节钙化或肌张力障碍相关的基因中发现有害变化。
在特发性基底节钙化患者中应考虑泛酸激酶相关神经退行性变，尤其是当发现仅限于苍白球时。
