神经纤维瘤病
医学
癫痫
发作性
胶质瘤
脑病
肿瘤科
病理
内科学
癌症研究
精神科
作者
Sarah Barrière,Cécile Faure‐Conter,Pierre Leblond,M Philippe,Randy L. Gollub,Laurence Lion François,Julitta de Bellescize,Isabelle Sabatier
摘要
Abstract Background Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder due to a mutation in NF1 gene, resulting in phenotypically heterogeneous systemic manifestations. Patients with NF1 are prone to develop neoplasms of the central nervous system (CNS) and are particularly at risk for optic pathway gliomas (OPG). Epilepsy is another recognized neurologic complication in patients with NF1, with a prevalence estimated between 4% and 14%. Several case reports and early phase clinical trials have demonstrated that the mitogen‐activated protein kinase inhibitors (MEKi) are effective in NF1‐low‐grade gliomas (LGGs), but their influence on seizure activity in humans has not been established. Case study Here, we report a patient with NF1 and developmental and epileptic encephalopathy (DEE) harboring pharmacoresistant tonic seizures, and progressive optic pathway glioma (OPG). By using a MEKi therapy for her OPG, we observed an end to epileptic seizures as well as a significant improvement of interictal EEG abnormalities, despite a lack of tumor reduction. Conclusion MEK inhibitor therapy should be considered for patients with NF1 and refractory epilepsy.
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