Department of neurology, university hospital of Ben Aknoun, Algiers, Algeria.
Department of neurology, university hospital of Ben Aknoun, Algiers, Algeria.
Rev Neurol (Paris). 2017 Dec;173(10):658-662. doi: 10.1016/j.neurol.2017.05.013. Epub 2017 Jun 16.
Two clinical forms of pantothenate kinase-associated neurodegeneration (PKAN) have been described: typical PKAN and atypical PKAN. Atypical PKAN has later onset and a slower course of disease. This report describes two siblings with the atypical form of PKAN, combining dystonia, irritability and a dysmorphia syndrome. In addition, a review of the literature was carried out for all published cases of atypical PKAN to gather descriptions of its various clinical presentations, age of onset and MRI findings, and to highlight the different treatments used for PKAN patients.
已经描述了泛酸激酶相关神经退行性变（PKAN）的两种临床形式：典型 PKAN 和非典型 PKAN。非典型 PKAN 的发病较晚，疾病进程较慢。本报告描述了两例具有非典型 PKAN 的同胞，合并有肌张力障碍、易激惹和畸形综合征。此外，对所有已发表的非典型 PKAN 病例进行了文献复习，以收集其各种临床表现、发病年龄和 MRI 发现的描述，并强调了用于 PKAN 患者的不同治疗方法。
