Diaz Natalie
Los Angeles Biomedical Institute, Harbor-UCLA Medical Center, Box No. 492, 1000 W. Carson Street, Los Angeles, Torrance, CA 90509, USA.
Case Rep Neurol Med. 2013;2013:860201. doi: 10.1155/2013/860201. Epub 2013 Mar 24.
Introduction. Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare genetic disease and a form of neurodegeneration with brain iron accumulation (NBIA). It most commonly begins in the first two decades of life but should be considered in the differential diagnosis of patients at any age with an atypical progressive extrapyramidal disorder and cognitive impairment. Few late-adult cases have been reported. Case Report. A 50-year-old woman presented with a history of progressive dysarthria and dysphagia secondary to orolingual dystonia. Initial work-up was normal. There was no family history. Her initial symptoms were followed by the onset of blepharospasm, cervical dystonia, Parkinsonism, and cognitive impairment. Follow-up MRI four years after presentation revealed the diagnostic "eye-of-the-tiger" sign. Genetic testing confirmed a homozygous missense mutation consistent with the diagnosis of PKAN. Conclusion. Although PKAN is a rare genetic disorder most commonly seen in childhood, it should be considered in adult patients with a history of progressive focal dystonia or atypical Parkinsonism. As the radiographic findings are quite characteristic, genetic testing should be performed if the MRI shows evidence of iron accumulation. Optimal treatment strategies are not known, and at the current time therapies should be directed at the specific manifestations of the disease.
引言。泛酸激酶相关神经变性（PKAN）是一种罕见的遗传疾病，也是脑铁沉积神经变性（NBIA）的一种形式。它最常始于生命的前二十年，但对于任何年龄患有非典型进行性锥体外系疾病和认知障碍的患者，在鉴别诊断时都应考虑该病。很少有老年病例的报道。病例报告。一名50岁女性，有口面部肌张力障碍继发的进行性构音障碍和吞咽困难病史。初始检查结果正常。无家族史。在其初始症状之后，出现了眼睑痉挛、颈部肌张力障碍、帕金森综合征和认知障碍。就诊四年后的随访磁共振成像（MRI）显示出诊断性的“虎眼征”。基因检测证实存在一个与PKAN诊断相符的纯合错义突变。结论。尽管PKAN是一种罕见的遗传疾病，最常见于儿童期，但对于有进行性局灶性肌张力障碍或非典型帕金森综合征病史的成年患者也应考虑该病。由于影像学表现颇具特征性，如果MRI显示有铁沉积证据，应进行基因检测。目前尚不清楚最佳治疗策略，目前的治疗应针对疾病的具体表现。
