Neurol Sci. 2013 Jul;34(7):1235-8. doi: 10.1007/s10072-012-1129-3. Epub 2012 Jun 23.
We report the clinical description of an Italian patient with c.638A>G mutation in exon 5 of EIF2B2 gene and a very slow progressive Vanishing White Matter disease phenotype. Infact, in relation to her causative mutation, our patient had an unusual early onset and long course. Furthermore, other than standard MRI examination and spectroscopy study, we report DWI and ADC maps and FA maps reconstruction from DTI in order to describe brain tissue degeneration in vanishing white matter disease.
我们报告了一位意大利患者的临床描述，该患者的 EIF2B2 基因外显子 5 中存在 c.638A>G 突变，表现为非常缓慢进展的脑白质消失疾病表型。事实上，与她的致病突变相关，我们的患者具有不寻常的早发和长病程。此外，除了标准的 MRI 检查和光谱研究外，我们还报告了 DWI 和 ADC 图谱以及 DTI 重建的 FA 图谱，以便描述脑白质消失疾病中的脑组织退化。
