Kami Atefe, Langari Alale, Gharib Mohammad H, Ghelichi-Ghojogh Mousa, Hosseini Parmis S, Hosseini Seyed A
Golestan University of Medical Sciences.
Neonatal and Children's Health Research Center, Golestan University of Medical Sciences, Gorgan, Iran.
Ann Med Surg (Lond). 2023 Jun 28;85(8):4087-4091. doi: 10.1097/MS9.0000000000001017. eCollection 2023 Aug.
Vanishing white matter (VWM) is a neurological disorder that has an autosomal recessive mode of inheritance. VWM is caused due to a mutation in in any of the five genes of eukaryotic translation initiation factor 2B (eIF2B). The etiology is unknown.
The authors report two cases of VWM disease. In the first case, an 8-month-old female child, brought to the pediatric clinic with seizure and loss of consciousness. The second case was a 24-month-old girl, presented with weakness, a disability to walk and swallow, and poor feeding. Her brain MRI demonstrated cystic changes (white matter rarefaction) in supratentorial peri-ventricular white matter and genetic testing result showed an EIF2B3 gene mutation.
Leukoencephalopathy with VWM, also known as Cree encephalopathy is caused by mutations in the EIF2B gene. The disease is inherited in an autosomal recessive fashion. There are various agents leading to symptoms and signs of VWM disease. Physical stress like head trauma even in a mild degree, infections, and febrile diseases can be mentioned as causes of VWM. The eIF2B complex, plays a role as an important factor in the regulation of protein synthesis in cells under different conditions.
As a conclusion, genetic counseling could be recommended to all individuals with VWM disease and their family members for next pregnancies and possible precautions for consanguineous marriages.
消失性白质病（VWM）是一种具有常染色体隐性遗传模式的神经疾病。VWM是由真核生物翻译起始因子2B（eIF2B）的五个基因中的任何一个发生突变引起的。其病因尚不清楚。
作者报告了两例VWM疾病。第一例，一名8个月大的女童，因癫痫发作和意识丧失被带到儿科诊所。第二例是一名24个月大的女孩，表现为虚弱、行走和吞咽功能障碍以及喂养困难。她的脑部磁共振成像显示幕上脑室周围白质有囊性改变（白质稀疏），基因检测结果显示EIF2B3基因突变。
伴有VWM的白质脑病，也称为克里脑病，由EIF2B基因突变引起。该疾病以常染色体隐性方式遗传。有多种因素可导致VWM疾病的症状和体征。身体应激如即使是轻度的头部外伤、感染和发热性疾病都可被提及为VWM的病因。eIF2B复合物在不同条件下作为细胞中蛋白质合成调节的重要因子发挥作用。
总之，对于所有患有VWM疾病的个体及其家庭成员，建议进行遗传咨询，以便为下次怀孕及近亲结婚可能采取的预防措施提供建议。
