Pirzadeh Zahra, Ghofrani Mohammad, Mollamohammadi Mohsen
Pediatric Neurology Department, Children Growth Research Center, Qazvin University of Medical Sciences, Qazvin, Iran.
Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
Iran J Child Neurol. 2017 Spring;11(2):31-36.
Intractable epilepsy is a serious neurologic problem with different etiologies. Decreased levels of pyridoxal phosphate in cerebral spinal fluid of patients with intractable epilepsy due to pyridoxine dependency epilepsy are reported. The aim of this study was to compare plasma pyridoxal 5´-phosphate level in patients with intractable and controlled epilepsy.
MATERIALS & METHODS: This cross- sectional analytic study included 66 epileptic children, 33 patients with controlled and 33 patients with intractable epilepsy, after neonatal period up to 15 yr old of age. Thirty-three patients with intractable epilepsy (10- 162 months) and 33 patients with controlled epilepsy (14-173 months) were enrolled. The study was conducted in Pediatric Neurology Clinic of Mofid Children Hospital, Tehran, Iran from January 2010 to December 2010. Patients' clinical manifestations, laboratory and neuroimaging findings were collected. Non-fasting plasma 5´- pyridoxal phosphate levels of these subjects were assessed by high-pressure liquid chromatography.
Mean plasma 5´- pyridoxal phosphate level (PLP) in patients with controlled epilepsy was 76.78±37.24 (nmol/l) (15.5-232.4). In patients with intractable epilepsy, mean plasma 5´- pyridoxal phosphate was 98.67± 80.58 (25.5- 393) nmol/l. There was no statistically significant difference between plasma pyridoxal phosphate levels of these two groups (P═0.430).
Pyridoxine dependent epilepsy is under diagnosed because it is manifested by various types of seizures. Plasma pyridoxal phosphate levels did not differ in our patients with intractable or controlled epilepsy. If PDE is suspected on clinical basis, molecular investigation of ALDH7A1 mutations, as feasible test, until PDE biomarkers becomes available is recommended.
难治性癫痫是一种病因各异的严重神经问题。据报道,因吡哆醇依赖性癫痫导致的难治性癫痫患者脑脊液中磷酸吡哆醛水平降低。本研究的目的是比较难治性癫痫患者和已控制癫痫患者的血浆5'-磷酸吡哆醛水平。
这项横断面分析研究纳入了66例癫痫患儿,其中33例为已控制癫痫患者,33例为难治性癫痫患者,年龄在新生儿期至15岁之间。纳入了33例难治性癫痫患者(年龄10 - 162个月)和33例已控制癫痫患者(年龄14 - 173个月)。该研究于2010年1月至2010年12月在伊朗德黑兰莫菲德儿童医院儿科神经科门诊进行。收集了患者的临床表现、实验室检查和神经影像学检查结果。通过高压液相色谱法评估这些受试者的非空腹血浆5'-磷酸吡哆醛水平。
已控制癫痫患者的平均血浆5'-磷酸吡哆醛水平(PLP)为76.78±37.24(nmol/l)(范围15.5 - 232.4)。难治性癫痫患者的平均血浆5'-磷酸吡哆醛水平为98.67±80.58(25.5 - 393)nmol/l。这两组患者的血浆磷酸吡哆醛水平之间无统计学显著差异(P = 0.430)。
吡哆醇依赖性癫痫因表现为各种类型的发作而诊断不足。在我们的难治性癫痫患者和已控制癫痫患者中,血浆磷酸吡哆醛水平没有差异。如果基于临床怀疑为吡哆醇依赖性癫痫,建议在有可行的磷酸吡哆醛依赖性癫痫生物标志物之前,对ALDH7A1突变进行分子检测作为一种可行的检测方法。