Del Balzo Francesca, Spalice Alberto, Perla Massimo, Properzi Enrico, Iannetti Paola
Division of Child Neurology, Department of Pediatrics, University "La Sapienza", Rome.
Pediatr Neurol. 2009 Jan;40(1):63-7. doi: 10.1016/j.pediatrneurol.2008.09.023.
Several cases with cerebral infarctions associated with the C677T mutation in the methylenetetrahydrofolate reductase gene (MTHFR) have been reported. Given the large number of asymptomatic individuals with the MTHFR mutation, additional risk factors for cerebral infarction should be considered. This study describes a large family with the MTHFR mutation and a combination of heterozygous factor V Leiden mutations and different additional exogenous and endogenous thrombogenic risk factors. Psychomotor retardation and a left fronto-insular infarct associated with the MTHFR mutation together with diminished factor VII and low level of protein C was documented in the first patient. In the second patient, generalized epilepsy and a malacic area in the right nucleus lenticularis was associated with the MTHFR mutation and a low level of protein C. In the third patient, right hemiparesis and a left fronto-temporal porencephalic cyst were documented, together with the MTHFR mutation and hyperhomocysteinemia. An extensive search of additional circumstantial and genetic thrombogenic risk factors should be useful for prophylaxis and prognosis of infants with cerebral infarctions associated with the MTHFR mutation and of their related family members.
已有报告称，数例脑梗死病例与亚甲基四氢叶酸还原酶基因（MTHFR）的C677T突变相关。鉴于大量携带MTHFR突变的个体并无症状，因此应考虑脑梗死的其他危险因素。本研究描述了一个大家庭，其成员存在MTHFR突变，同时伴有杂合子因子V莱顿突变以及不同的额外外源性和内源性血栓形成危险因素。第一名患者被记录有精神运动发育迟缓、与MTHFR突变相关的左侧额岛叶梗死，同时伴有因子VII减少和蛋白C水平降低。第二名患者出现全身性癫痫以及右侧豆状核软化灶，与MTHFR突变和蛋白C水平降低有关。第三名患者记录有右侧偏瘫和左侧额颞叶脑穿通畸形囊肿，同时伴有MTHFR突变和高同型半胱氨酸血症。广泛寻找其他间接和遗传血栓形成危险因素，对于预防和预测与MTHFR突变相关的脑梗死婴儿及其相关家庭成员的预后应是有用的。
