Yapici Zuhal, Akcakaya Nihan Hande, Tekturk Pinar, Iseri Sibel Aylin Ugur, Ozbek Ugur
Istanbul University, Istanbul Medical Faculty, Department of Neurology, Division of Child Neurology, Istanbul, Turkey.
Istanbul University, Institute of Experimental Medicine (DETAE), Department of Genetics, Istanbul, Turkey.
Brain Dev. 2016 Sep;38(8):755-8. doi: 10.1016/j.braindev.2016.02.010. Epub 2016 May 13.
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurodegenerative condition. Major clinical features include progressive dystonia, pigmentary retinopathy, spasticity, and cognitive decline. The typical MRI sign of the disease, known as "eye-of-the-tiger", is what makes differential diagnosis possible. We here describe a 16-year-old male patient with PKAN presenting with severe and sustained jaw-opening dystonia which may be due to heterogeneous etiologies showing poor response to treatment. Herein, long-term follow-up and genetic results of a PKAN case who experienced severe jaw-opening dystonia are presented and discussed.
泛酸激酶相关神经变性（PKAN）是一种罕见的神经退行性疾病。主要临床特征包括进行性肌张力障碍、色素性视网膜病变、痉挛和认知衰退。该疾病典型的MRI征象，即所谓的“虎眼征”，使得鉴别诊断成为可能。我们在此描述一名16岁男性PKAN患者，其表现为严重且持续的张口肌张力障碍，这可能是由于病因异质性导致对治疗反应不佳。本文展示并讨论了一名经历严重张口肌张力障碍的PKAN病例的长期随访及基因检测结果。
