Shiraz Neuroscience Research Center; Division of Pediatric Neurology, Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran.
Pediatric Neurologist, Shahrkord University of Medical Sciences, Shahrkord, Iran.
Neurol India. 2021 Sep-Oct;69(5):1343-1348. doi: 10.4103/0028-3886.329526.
Folate is an important vitamin with a significant role in cell metabolism processes, and its deficiency is associated with several diseases. In addition, cerebral folate deficiency is associated with neurodevelopmental disorders. Studying the association of serum and cerebral folate deficiency with childhood neurodevelopmental disorders such as refractory epilepsy, developmental delay, and regression can be an important step towards the improvement of symptoms of such disorders.
In this cross-sectional study, from February to October 2018, 60 children aged 6 months to 5 years; known cases of idiopathic refractory epilepsy; were selected randomly. After recording demographic, and clinical characteristics, cerebrospinal fluid (CSF) and blood samples were taken from the patients and sent to a laboratory for measurement of 5-methyltetrahydrofolate (5MTHF), folate, and homocysteine levels.
Sixty patients completed the study, including 33 boys (55%) and 27 girls (45%). Mean ± SD of the studied population was 26.93 ± 19.97 months. Eighteen children (30%) had refractory epilepsy, 11 (18.3%) had developmental delay, 12 (20%) had refractory epilepsy and developmental delay, and 19 (31.7%) had refractory epilepsy and developmental regression. The results of brain magnetic resonance imaging (MRI) were normal in 47 (78.3%) children and atrophic in 13 (21.7%) children. Mean ± SD of serum level of homocysteine was 9.14 ± 8.58 μmol/L, that of folate was 11.60 ± 6.89 nmol/L, and that of 5MTHF was 69.23 ± 54.16 nmol/L.
Measurement of serum folate, homocysteine, and CSF level of 5MTHF are of great importance in patients with developmental disabilities.
叶酸是一种重要的维生素，在细胞代谢过程中具有重要作用，其缺乏与多种疾病有关。此外，脑叶酸缺乏与神经发育障碍有关。研究血清和脑叶酸缺乏与儿童神经发育障碍（如难治性癫痫、发育迟缓、退行性）之间的关系，可能是改善此类疾病症状的重要步骤。
在这项横断面研究中，于 2018 年 2 月至 10 月期间，随机选择了 60 名 6 个月至 5 岁的儿童；这些儿童患有特发性难治性癫痫。在记录了人口统计学和临床特征后，从患者中采集了脑脊液（CSF）和血液样本，并送往实验室测量 5-甲基四氢叶酸（5MTHF）、叶酸和同型半胱氨酸水平。
60 名患者完成了研究，包括 33 名男孩（55%）和 27 名女孩（45%）。研究人群的平均年龄为 26.93 ± 19.97 个月。18 名儿童（30%）患有难治性癫痫，11 名（18.3%）患有发育迟缓，12 名（20%）患有难治性癫痫和发育迟缓，19 名（31.7%）患有难治性癫痫和发育性退行性。47 名（78.3%）儿童的脑部磁共振成像（MRI）结果正常，13 名（21.7%）儿童的 MRI 结果为脑萎缩。血清同型半胱氨酸水平的平均值 ± 标准差为 9.14 ± 8.58 μmol/L，叶酸水平为 11.60 ± 6.89 nmol/L，5MTHF 水平为 69.23 ± 54.16 nmol/L。
在发育障碍患者中，测量血清叶酸、同型半胱氨酸和 CSF 5MTHF 水平非常重要。
