Prolonged neurologic deficits with brain MRI changes following ECT in an adolescent with a CACNA1a-related disorder; a case report.
Prolonged neurologic deficits with brain MRI changes following ECT in an adolescent with a CACNA1a-related disorder; a case report.
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DOI：
10.1186/s12883-022-02994-7
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发表时间：
2022-12-09
期刊：
影响因子：
2.6
通讯作者：
Agarwal, Sonika
中科院分区：
文献类型：
--
作者：
Vithayathil, Joseph;Freeman, Colbey;Jacobwitz, Marin;Schwartz, Erin Simon;Agarwal, Sonika
电痉挛疗法用于治疗抑郁症和精神分裂症，但在儿科患者中很少使用。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，在右侧单侧电休克治疗（ECT）后，影像学显示癫痫持续状态（SE）和延长的神经功能缺陷，并伴有单侧左脑水肿，随后发现有CACNA1a致病性变异。本病例强调了ECT对CACNA1a相关疾病患者的潜在不良影响。患者接受了单侧右侧电痉挛治疗，随后出现了SE发作并伴有右侧偏瘫72小时，随后恢复了部分功能，并持续了至少1-2周的轻度右手无力。ECT后2天的脑MRI无明显变化，但入院第4天的重复MRI显示左半球皮质扩散受限，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变异（p.i 179t）。CACNA1a编码P/Q型钙通道，该基因的有害变异导致与一系列神经发育障碍相关的通道病变，包括自闭症谱系障碍、偏瘫性偏头痛伴单侧脑水肿、癫痫性脑病或发作性共济失调综合征。一篇关于电痉挛疗法和神经功能缺损的文献综述显示，大多数神经功能缺损在电痉挛疗法30分钟内消退。病例报告的长期缺陷是罕见的，并没有事先报告急性MRI改变相关的ECT。因此，该患者的急性恶化和MRI表现可能与潜在的CACNA1a通道病变有关，ECT是诱发事件。本病例报告建议在CACNA1a致病性变异患者中使用ECT时应谨慎。此外，它强化了在神经发育障碍患者中扩展基因检测的效用和重要性，因为发现可以提供有价值的信息，可以指导治疗决策。
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. 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. 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.
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影响因子：
3.8
作者：
Curtain, RP;Smith, RL;Griffiths, LR
通讯作者：
Griffiths, LR
影响因子：
3.4
作者：
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Boesch S
DOI：
10.1111/j.1749-6632.1989.tb24084.x
发表时间：
1989-06-26
影响因子：
5.2
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作者：
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Furby, A
影响因子：
25
作者：
Bourinet, E;Soong, TW;Snutch, TP
通讯作者：
Snutch, TP