San Antonio-Arce V, Martín Fernández-Mayoralas D, Muñoz-Jareño N, Fresneda-Machado C, Sáiz-Ayala A, Campos-Castelló J
Departamento de Neuropediatría, Hospital Clinico San Carlos, 28040 Madrid, España.
Rev Neurol. 2006;43(9):535-40.
Leukoencephalopathy with vanishing white matter is an autosomal recessive hereditary disease that was first reported in 1997. Some time later the genetic anomalies responsible for the disease were identified, these being different mutations in any of the five genes that code for the five subunits of the translation initiation factor, eIF2B. Since then, the clinical spectrum of this condition has proved to be much broader and far more frequent than was initially believed. We report on a case of the classical clinical form, which is to our knowledge the first to be published in Spain to date.
A 5-year-old female who presented gait instability that recently got worse following a mild traumatic head injury. The examination revealed overall cerebellar ataxia and generalised spasticity. Magnetic resonance imaging (MRI) showed diffuse and symmetrical involvement of the white matter of the brain with the presence of cavities in which the signal intensity and the proton spectrum were similar to those of cerebrospinal fluid. The genetic study revealed a mutation of the gene that codes for eIF2B-epsilon.
A suggestive MRI scan, even in an atypical presentation, would be enough to rule out a mutation of the genes that code for eIF2B. This would make it possible to reach an early diagnosis of this disease, which is probably more prevalent than is currently thought. This would allow genetic counselling to be conducted and would help to establish a genotype-phenotype correlate that would also make it possible to offer an estimated prognosis.
伴脑白质消失的脑白质病是一种常染色体隐性遗传病，于1997年首次报道。一段时间后，确定了导致该病的基因异常，即翻译起始因子eIF2B五个亚基的编码基因中的任何一个发生不同突变。从那时起，这种疾病的临床谱已被证明比最初认为的要广泛得多且更为常见。我们报告了一例经典临床形式的病例，据我们所知，这是迄今为止在西班牙发表的首例病例。
一名5岁女性，出现步态不稳，近期在轻度头部外伤后病情加重。检查发现整体小脑共济失调和全身性痉挛。磁共振成像（MRI）显示脑白质弥漫性对称受累，存在空洞，其中信号强度和质子谱与脑脊液相似。基因研究显示编码eIF2B-ε的基因突变。
即使在非典型表现中，具有提示性的MRI扫描也足以排除编码eIF2B的基因突变。这将有可能对这种疾病进行早期诊断，其实际患病率可能比目前认为的更高。这将有助于进行遗传咨询，并有助于建立基因型与表型的相关性，从而也能够提供估计的预后。
