Martin Andrew J
Neurology Department, Blacktown Hospital, Blacktown, New South Wales, Australia
Pract Neurol. 2025 Jan 16;25(1):66-69. doi: 10.1136/pn-2024-004246.
Retinal vasculopathy with cerebral leukoencephalopathy is a rare autosomal dominant genetic disorder due to mutation in the gene and presents with both central nervous system (CNS) and other organ dysfunction. It is often misdiagnosed as demyelination or vasculitis based on imaging features, often with potentially harmful immunotherapy given unnecessarily. This report describes two sisters with progressive hemiparesis, retinal vasculopathy and hepatic dysfunction, one of whom was initially misdiagnosed and treated for cerebral vasculitis. Imaging showed extensive and asymmetric white matter lesions with persistent diffusion restriction and contrast enhancement. Extensive autoimmune and infectious investigations were unremarkable. Both patients had a novel heterozygous variant in the gene, giving a diagnosis of retinal vasculopathy with cerebral leukoencephalopathy. Clinicians should consider this condition in atypical presentations of suspected demyelination or CNS vasculitis.
伴有脑白质脑病的视网膜血管病变是一种罕见的常染色体显性遗传病，由该基因的突变引起，表现为中枢神经系统（CNS）和其他器官功能障碍。基于影像学特征，它常被误诊为脱髓鞘或血管炎，常常不必要地给予潜在有害的免疫治疗。本报告描述了两名患有进行性偏瘫、视网膜血管病变和肝功能障碍的姐妹，其中一人最初被误诊为脑血管炎并接受了治疗。影像学显示广泛且不对称的白质病变，伴有持续的弥散受限和对比增强。广泛的自身免疫和感染性检查均无异常。两名患者在该基因中均有一个新的杂合变异，诊断为伴有脑白质脑病的视网膜血管病变。临床医生在疑似脱髓鞘或中枢神经系统血管炎的非典型表现中应考虑这种情况。
