Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, the Netherlands; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam University Medical Center, Amsterdam, the Netherlands; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands.
Department of Neurosurgery, St. Elisabeth Hospital, Tilburg, the Netherlands; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands.
Clin Neurol Neurosurg. 2024 Oct;245:108517. doi: 10.1016/j.clineuro.2024.108517. Epub 2024 Aug 18.
We present the case of a patient with leukoencephalopathy with calcifications and cysts (LCC), who experienced progressive severe hemiparesis despite multiple neurosurgical interventions of a large contralateral cyst. Bevacizumab was proposed as an ultimate treatment option based on prior case reports. While awaiting reimbursement approval for bevacizumab, major improvement occurred in both clinical and radiological disease manifestations. The disease course of LCC is variable and unpredictable; neurosurgical treatment should be reserved for severe and progressive neurological deficits. Bevacizumab has been reported as a promising alternative treatment option. Importantly, in our case the observed clinical improvement would have been attributed to the effects of bevacizumab, if started when requested. Our case underscores the need for a natural history study for LCC and the necessity of validating treatment efficacy by systematic evaluation through appropriate clinical trials rather than relying on anecdotal evidence from published case reports.
我们报告了一例脑白质病伴钙化和囊肿(LCC)患者的病例,尽管对侧大囊肿进行了多次神经外科干预,但仍逐渐出现严重的偏瘫。基于先前的病例报告,贝伐珠单抗被提议作为最终的治疗选择。在等待贝伐珠单抗报销批准的过程中,临床和影像学疾病表现均出现了显著改善。LCC 的病程是多变且不可预测的;神经外科治疗应保留用于严重和进行性神经功能缺损。贝伐珠单抗已被报道为一种有前途的治疗选择。重要的是,如果在要求时开始使用贝伐珠单抗,我们的病例中观察到的临床改善将归因于其作用。我们的病例强调了对 LCC 进行自然病史研究的必要性,以及通过系统评估(通过适当的临床试验)验证治疗效果的必要性,而不是依赖已发表病例报告中的轶事证据。