Beres Shannon Jeanine, Avery Robert A
Department of Neurology, Stanford University, Palo Alto, CA.
Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Semin Pediatr Neurol. 2017 May;24(2):92-99. doi: 10.1016/j.spen.2017.04.006. Epub 2017 Apr 10.
Children with neurofibromatosis type 1 frequently manifest optic pathway gliomas-low-grade gliomas intrinsic to the visual pathway. This review describes the molecular and genetic mechanisms driving optic pathway gliomas as well as the clinical symptoms of this relatively common genetic condition. Recommendations for clinical management and descriptions of the newest imaging techniques are discussed.
1型神经纤维瘤病患儿常表现为视路胶质瘤,即视路内的低级别胶质瘤。本综述描述了驱动视路胶质瘤的分子和遗传机制,以及这种相对常见的遗传疾病的临床症状。文中还讨论了临床管理建议和最新成像技术的描述。