PANK2突变所致苍白球黑质红核色素变性病一例  

A case of pantothenate kinase-associated neurodegeneration caused by mutation of PANK2

作　　者：董晓立 李花 郭静 成丽娜 王展航 Dong Xiaoli;Li Hua;Guo Jing;Cheng Lina;Wang Zhanhang(Department of Neurology,the Guangdong三九Brain Hospial,Guangzhou 510520,China)

机构地区：[1]广东三九脑科医院,广州市510520

出　　处：《脑与神经疾病杂志》2019年第11期684-687,共4页Journal of Brain and Nervous Diseases

摘　　要：目的了解苍白球黑质红核色素变性病(HSD)或泛酸激酶相关性神经变性病,PKAN)的临床及遗传学特点,避免漏诊误诊。方法分析本院2018年收治1例PANK2突变所致HSD患者的临床资料。结果PANK2所致PKAN为常染色体隐性遗传病,该患儿分别遗传自父亲PANK2基因c.428dupC点插入突变和遗传自母亲的c.445G>T错义突变,形成复合杂合突变,引起蛋白功能异常而致病。他小2岁弟弟仅携带来自父亲的突变,无发病。结论PK4N是脑组织铁沉积性神经变性病最常见一种,由丹叱基因突变所致,以锥体外系症状为主,伴锥体系、眼部等复杂临床症状,分为早发典型和晚发不典型。头颅MRI T2加权像“虎眼征”为其影像学特点,确诊需行基因检测。Objective To investigate the clinical features and pathogenic genes in patients with pantothenate kinase-associated neurodegeneration(PKAN),then avioding misdiagnose.Mathods The clinical data collected from one patient of pantothenate kinase-associated neurodegeneration with PANK2 mutation was analyzed retreospctively,and the related literature from database of Wanfang,CNKI,Pubmed,etal,summarize the clinical features and genetics of PKAN.Results PKAN is an autosomal recessive disorder characterized by a mutation in the PANK2 gene.The patient diagnosed with c.428dupC insertion mutation of PANK2 from father and C.445G>T missense mutation of PANK2 from mather,which result in the disease.His two years younger brother only with the c.428dupC mutation from father isn't attacked.Conclusion The most common cause of NBIA is pathogenic variants in PANK2 gene leading to PKAN.The main symptom of patients with NBIA was extrapyramidal syndrome.T2 weighted MRI scans showed remarkable low signal intensity localized to bilateral globus pallidus and substa ntianigra.Gene detection is essential for the diagnosis of NBIA.

关 键 词：脑组织铁沉积神经变性病 苍白球黑质红核色素变性 泛酸激酶相关性神经变性 HSD 虎眼征 

分 类 号：R741[医药卫生—神经病学与精神病学]