Scaffei Elena, Buchignani Bianca, Pasquariello Rosa, Cristofani Paola, Canapicchi Raffaello, Biagi Laura, Giordano Flavio, De Marco Emanuela, Crow Yanick J, Battini Roberta
Department of Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.
Department of Neuroscience, Psychology, Drug Research and Child Health NEUROFARBA, University of Florence, Florence, Italy.
Front Neurol. 2023 Sep 20;14:1245014. doi: 10.3389/fneur.2023.1245014. eCollection 2023.
Leukoencephalopathy with Calcifications and Cysts (LCC) is a rare genetic microangiopathy exclusively affecting the central nervous system caused by biallelic mutations in . Brain magnetic resonance imaging (MRI) is often diagnostic due to the highly characteristic triad of leukoencephalopathy, intracranial calcifications, and brain cysts. Age at onset, presentation and disease evolution can all vary, ranging from pauci-symptomatic disease to rapid evolution of signs with loss of motor and cognitive abilities. No specific therapies for LCC are currently licensed. According to the literature, bevacizumab might represent an effective modality to improve the clinical and MRI features of the disease. However, uncertainty remains as to the true efficacy of this approach, when to begin therapy, appropriate dosing, and the consequences of drug withdrawal. According to CARE guidelines, we describe the long-term clinical and neuro-radiological follow-up of a 10-year-old child with LCC. We report disease evolution following repeated cycles of treatment with bevacizumab. Our case report suggests that repeated cycles of bevacizumab might effectively modify disease progression, possibly indicating a time-dependent effect.
伴有钙化和囊肿的白质脑病（LCC）是一种罕见的遗传性微血管病，仅累及中枢神经系统，由……的双等位基因突变引起。脑磁共振成像（MRI）通常具有诊断价值，因为其具有白质脑病、颅内钙化和脑囊肿这一高度特征性的三联征。发病年龄、临床表现和疾病进展各不相同，从症状轻微的疾病到运动和认知能力丧失的体征快速进展。目前尚无针对LCC的特定许可疗法。根据文献，贝伐单抗可能是改善该疾病临床和MRI特征的一种有效方式。然而，这种方法的真正疗效、何时开始治疗、合适的剂量以及停药的后果仍不确定。根据CARE指南，我们描述了一名10岁LCC患儿的长期临床和神经放射学随访情况。我们报告了贝伐单抗重复治疗周期后的疾病进展。我们的病例报告表明，贝伐单抗重复治疗周期可能有效改变疾病进展，可能提示存在时间依赖性效应。
