The study reports a girl with pyridoxine-dependent epilepsy. The girl was admitted at the age of 2 years because of intermittent convulsions for 1.5 years and psychomotor retardation. She had a history of "hypoxia" in the neonatal period. At the age of 5 months recurrent epileptic seizures occurred. The child was resistant to antiepileptic drugs, and had many more seizures when she got cold or fever. She also had a lot of convulsive status epilepticus. No discharges were found during several video-EEG monitorings. Cerebral MRI examinations showed normal results. So Dravet syndrome was clinically suspected. ALDH7N1 gene mutation analysis revealed two heterozygote mutations, and pyridoxine-dependent epilepsy was thus confirmed. Seizures were generally controlled after pyridoxine supplementation.
该文报道1例吡哆醇依赖性癫癎患儿。患儿女，2岁时因发育落后，间断抽搐1年半就诊。患儿新生儿期曾有“缺氧”病史，婴儿期早期即出现难以控制的惊厥发作，部分性发作为主，多次癫癎持续状态，多种抗癫癎药物均不能控制发作。发热感冒时抽搐发作频繁。治疗前后多次视频脑电图及头颅MRI检查均正常。曾考虑诊断为Dravet综合征，后通过ALDH7A1基因检测确诊为吡哆醇依赖性癫癎。确诊后逐渐减停抗癫癎药物，仅单纯口服吡哆醇，发作基本控制。