Abstract：
BACKGROUND: Electroconvulsive therapy is used to treat depression and schizophrenia with infrequent use in pediatric patients. We report a case of an adolescent with autism spectrum disorder and acute catatonia that presented with status epilepticus (SE) and prolonged neurologic deficits with unilateral left cerebral edema on imaging following unilateral electroconvulsive therapy (ECT) on the right side, subsequently found to have a CACNA1a pathogenic variant. This case highlights a potential adverse effect of ECT in patients with CACNA1a related disorders.
METHODS: The patient received unilateral ECT to the right side and subsequently had an episode of SE with right-sided hemiplegia for 72 h prior to regaining some function with persistent mild right-hand weakness that persisted for at least 1-2 weeks. A brain MRI 2 days after ECT was unremarkable, but a repeat MRI on day four of admission showed left hemisphere cortical diffusion restriction, increased perfusion and T2 prolongation suggestive of cortical edema. They had whole exome genetic testing sent after discharge that showed a known pathogenic CACNA1a variant (p.I1709T). CACNA1a encodes the P/Q type calcium channels and deleterious variants in this gene result in a channelopathy associated with a spectrum of neurodevelopmental disorders that include autism spectrum disorder, hemiplegic migraine with unilateral cerebral edema, epileptic encephalopathies, or episodic ataxia syndromes.
CONCLUSIONS: A literature review of ECT and neurologic deficits showed that most neurologic deficits resolve within 30 min of ECT. Case reports of prolonged deficits are rare and there are no prior reports of acute MRI changes related to ECT. Thus, the acute deterioration and MRI findings in this patient are likely related to the underlying CACNA1a channelopathy disorder with ECT as a precipitating event. This case report suggests care should be taken when using ECT in patients with pathogenic variants in CACNA1a. Furthermore, it reinforces the utility and importance of expanded genetic testing in patients with neurodevelopmental disorders as findings can provide valuable information that can guide treatment decisions.
METHODS: The patient received unilateral ECT to the right side and subsequently had an episode of SE with right-sided hemiplegia for 72 h prior to regaining some function with persistent mild right-hand weakness that persisted for at least 1-2 weeks. A brain MRI 2 days after ECT was unremarkable, but a repeat MRI on day four of admission showed left hemisphere cortical diffusion restriction, increased perfusion and T2 prolongation suggestive of cortical edema. They had whole exome genetic testing sent after discharge that showed a known pathogenic CACNA1a variant (p.I1709T). CACNA1a encodes the P/Q type calcium channels and deleterious variants in this gene result in a channelopathy associated with a spectrum of neurodevelopmental disorders that include autism spectrum disorder, hemiplegic migraine with unilateral cerebral edema, epileptic encephalopathies, or episodic ataxia syndromes.
CONCLUSIONS: A literature review of ECT and neurologic deficits showed that most neurologic deficits resolve within 30 min of ECT. Case reports of prolonged deficits are rare and there are no prior reports of acute MRI changes related to ECT. Thus, the acute deterioration and MRI findings in this patient are likely related to the underlying CACNA1a channelopathy disorder with ECT as a precipitating event. This case report suggests care should be taken when using ECT in patients with pathogenic variants in CACNA1a. Furthermore, it reinforces the utility and importance of expanded genetic testing in patients with neurodevelopmental disorders as findings can provide valuable information that can guide treatment decisions.
摘要：
背景：电惊厥疗法用于治疗儿科患者中很少使用的抑郁症和精神分裂症。我们报告了一例患有自闭症谱系障碍和急性紧张症的青少年，在右侧单侧电惊厥治疗（ECT）后，影像学表现为癫痫持续状态（SE）和伴有单侧左脑水肿的长期神经功能缺损，随后发现具有CACNA1a致病变体。该病例强调了ECT对CACNA1a相关疾病患者的潜在不良反应。
方法：患者接受右侧单侧ECT治疗，随后出现SE发作伴右侧偏瘫72小时，然后恢复某些功能，并伴有持续的轻度右手无力，持续至少1-2周。ECT术后2天脑部MRI无异常,但是入院第四天的重复MRI显示左半球皮质弥散受限，灌注增加和T2延长提示皮质水肿。他们在出院后进行了全外显子组基因检测，显示出已知的致病性CACNA1a变体（p。I1709T)。CACNA1a编码P/Q型钙通道，该基因中的有害变体导致与一系列神经发育障碍相关的通道病，包括自闭症谱系障碍，偏瘫偏头痛伴单侧脑水肿，癫痫性脑病,或偶发性共济失调综合征。
结论：关于ECT和神经功能缺损的文献综述显示，大多数神经功能缺损在ECT30分钟内解决。很少有长期缺陷的病例报告，并且以前没有与ECT相关的急性MRI变化的报告。因此，该患者的急性恶化和MRI表现可能与潜在的CACNA1a通道病相关,并伴有ECT作为诱发事件.该病例报告表明，在CACNA1a中具有致病变异的患者中使用ECT时应注意。此外，它加强了扩展基因检测在神经发育障碍患者中的实用性和重要性，因为研究结果可以提供有价值的信息，可以指导治疗决策。
方法：患者接受右侧单侧ECT治疗，随后出现SE发作伴右侧偏瘫72小时，然后恢复某些功能，并伴有持续的轻度右手无力，持续至少1-2周。ECT术后2天脑部MRI无异常,但是入院第四天的重复MRI显示左半球皮质弥散受限，灌注增加和T2延长提示皮质水肿。他们在出院后进行了全外显子组基因检测，显示出已知的致病性CACNA1a变体（p。I1709T)。CACNA1a编码P/Q型钙通道，该基因中的有害变体导致与一系列神经发育障碍相关的通道病，包括自闭症谱系障碍，偏瘫偏头痛伴单侧脑水肿，癫痫性脑病,或偶发性共济失调综合征。
结论：关于ECT和神经功能缺损的文献综述显示，大多数神经功能缺损在ECT30分钟内解决。很少有长期缺陷的病例报告，并且以前没有与ECT相关的急性MRI变化的报告。因此，该患者的急性恶化和MRI表现可能与潜在的CACNA1a通道病相关,并伴有ECT作为诱发事件.该病例报告表明，在CACNA1a中具有致病变异的患者中使用ECT时应注意。此外，它加强了扩展基因检测在神经发育障碍患者中的实用性和重要性，因为研究结果可以提供有价值的信息，可以指导治疗决策。
