Spalice Alberto, Del Balzo Francesca, Perla Francesco Massimo, Properzi Enrico, Carducci Carla, Antonozzi Italo, Iannetti Paola
Division of Child Neurology.
Pediatr Rep. 2009 Jun 8;1(1):e4. doi: 10.4081/pr.2009.e4.
Posterior circulation vascular occlusive disease in children is a rare and uncommonly reported event. Among the numerous risk factors, the methylenetetrahydrofolate reductase (MTHFR) mutation is considered to be a common genetic cause of thrombosis in adults and children. Recently, a link between the MTHFR mutation and cerebrovascular disorders was reported in children. Diffusion tensor imaging (DTI) is a great improvement on magnetic resonance imaging (MRI), making the in vivo anatomical and pathological study of the brain and its fibers possible. In our patient cerebellar infarction was associated with MTHFR mutation and, in a standard neurological examination, DTI revealed normal white matter tracts.
儿童后循环血管闭塞性疾病是一种罕见且鲜有报道的事件。在众多风险因素中，亚甲基四氢叶酸还原酶（MTHFR）突变被认为是成人和儿童血栓形成的常见遗传原因。最近，有报道称儿童中MTHFR突变与脑血管疾病之间存在关联。扩散张量成像（DTI）是磁共振成像（MRI）的一大进步，使得对大脑及其纤维进行活体解剖学和病理学研究成为可能。在我们的患者中，小脑梗死与MTHFR突变相关，并且在标准神经学检查中，DTI显示白质束正常。
