Ziani Chaymae, Ziani Hamid, Oukrid Khaoula, Nasri Siham, Kamaoui Imane, Skiker Imane
Department of Radiology, Mohammed VI University Hospital, Oujda, Morocco.
Faculty of Medicine, University Mohammed First, BP 4806 Oujda University 60049, Oujda, Morocco.
Radiol Case Rep. 2024 Nov 14;20(1):767-771. doi: 10.1016/j.radcr.2024.10.085. eCollection 2025 Jan.
Leukoencephalopathy with vanishing white matter is a new autosomal recessive inherited disorder disease entity. It is a chronic disease with a progressive course and episodes of exacerbation, the prevalence of which is still unknown. This disease usually occurs in children and is rare, particularly in the non-Caucasian population. Its main symptoms are ataxia and spasticity and MRI is a key diagnostic tool. We present a juvenile-onset Moroccan case of leukoencephalopathy with vanishing white matter. MRI findings in this case included linear high signal intensity on T2-weighted and fluid-attenuated inversion recovery images in the pons, in addition to typical abnormalities in the cerebral white matter. The diagnosis of leukoencephalopathy with vanishing white matter was based on clinical criteria and the typical appearance on a cerebral MRI.
伴脑白质消失的白质脑病是一种新的常染色体隐性遗传性疾病实体。它是一种具有进行性病程且有加重发作的慢性疾病，其患病率尚不清楚。这种疾病通常发生在儿童中，较为罕见，尤其是在非白种人群中。其主要症状为共济失调和痉挛，磁共振成像（MRI）是关键的诊断工具。我们报告一例少年型摩洛哥伴脑白质消失的白质脑病病例。该病例的MRI表现包括脑桥在T2加权像和液体衰减反转恢复序列图像上呈线性高信号强度，此外脑白质还有典型异常。伴脑白质消失的白质脑病的诊断基于临床标准和脑部MRI的典型表现。
