Abramovici Sergiu, Blackburn Kaitlyn, Phinney Trevor, Mayoglou Lazarus
Neurology Division, University of Pittsburgh Medical Center, Hamot Hospital, Erie, Pennsylvania, U.S.A.
J Clin Neurophysiol. 2023 Mar 1;40(3):e11-e14. doi: 10.1097/WNP.0000000000000978. Epub 2022 Nov 29.
This case describes a patient with new onset of multiple daily paroxysmal stereotyped episodes with alteration of arousal and responsiveness. These episodes pose a diagnostic challenge because they may be misdiagnosed as epileptic seizures because of stereotypy, similarities in semiology, risk factors such as structural abnormality, and rhythmic EEG pattern. A 20-year-old woman with Chiari malformation, spina bifida, and ventriculoperitoneal shunt presented with paroxysmal episodes of change in responsiveness, concerning for seizure activity. Anti-seizure medication was started without amelioration. During the stereotyped episodes, she suffered from paroxysmal headache, drowsiness, poor responsiveness, and relative bradycardia. EEG confirmed relative bradycardia and revealed rapid buildup of generalized rhythmic delta activity without ictal features. Improvement with ICP lowering, and lack of epileptiform activity on EEG or localizing ictal semiology, prompted obtaining shunt imaging and brain MRI. The patient was subsequently diagnosed with shunt malfunction and underwent shunt revision, resulting in complete resolution of her paroxysmal spells. Although common differential diagnosis of brief paroxysmal stereotyped spells includes seizures or psychogenic nonepileptic attacks, this patient's case demonstrates clinical paroxysms caused by intracranial pressure fluctuations (plateau waves). When evaluating patients with possible intracranial pressure abnormality for paroxysmal spells, shunt malfunction should be considered as well.
该病例描述了一名患者，每天出现多次新发的阵发性刻板发作，伴有觉醒和反应性改变。这些发作构成了诊断挑战，因为由于刻板性、症状学上的相似性、结构异常等危险因素以及脑电图的节律模式，它们可能被误诊为癫痫发作。一名患有Chiari畸形、脊柱裂和脑室腹腔分流术的20岁女性出现反应性改变的阵发性发作，疑似癫痫活动。开始使用抗癫痫药物治疗但无改善。在刻板发作期间，她出现阵发性头痛、嗜睡、反应性差和相对心动过缓。脑电图证实了相对心动过缓，并显示出无癫痫发作特征的全身性节律性δ活动迅速增强。颅内压降低后症状改善，脑电图无癫痫样活动或定位癫痫发作症状学，促使进行分流成像和脑部MRI检查。该患者随后被诊断为分流故障并接受了分流修复，其阵发性发作完全缓解。虽然短暂阵发性刻板发作的常见鉴别诊断包括癫痫发作或精神性非癫痫发作，但该患者的病例显示了由颅内压波动（高原波）引起的临床阵发性发作。在评估可能存在颅内压异常的阵发性发作患者时，也应考虑分流故障。
