González Walter, Bautista Ramon Edmundo D
Department of Neurology, University of Florida Health Science Center/Jacksonville, Jacksonville, FL 32209, United States.
Seizure. 2009 Nov;18(9):648-51. doi: 10.1016/j.seizure.2009.07.003. Epub 2009 Aug 7.
This is the first case report to describe the EEG findings in a patient with DiGeorge syndrome who survived into adulthood. The patient developed generalized tonic-clonic seizures when she was 9 years old and these were associated with hypocalcemia. Despite treatment with calcium, seizures persisted and the patient required antiepileptic medications. She was eventually controlled with oxcarbazepine. An MRI of the head was normal. An EEG showed independent spike and wave discharges emanating from the left temporal and right frontal region. The presence of focal findings on EEG, the lack of complete response to calcium therapy, and the need for antiepileptic drug therapy indicate that some of these patients may be inherently predisposed to developing epilepsy.
这是首例描述存活至成年的DiGeorge综合征患者脑电图（EEG）检查结果的病例报告。该患者9岁时出现全身性强直阵挛发作，这些发作与低钙血症有关。尽管接受了钙剂治疗，但癫痫发作仍持续存在，患者需要使用抗癫痫药物。她最终通过奥卡西平得到控制。头部磁共振成像（MRI）检查结果正常。脑电图显示左侧颞叶和右侧额叶区域出现独立的尖波和慢波放电。脑电图上存在局灶性表现、对钙剂治疗缺乏完全反应以及需要抗癫痫药物治疗表明，这些患者中的一些人可能天生就易患癫痫。
