一名 15 岁的 MED13L 单倍体缺失综合征患者在癫痫综合征背景下的紧张症和维持性电休克疗法。

IF 1.8 4区医学 Q3 BEHAVIORAL SCIENCES

Journal of Ect Pub Date : 2024-09-01 Epub Date: 2024-07-04 DOI:10.1097/YCT.0000000000001049

H Yavuz Ince, Kerri Neville, Jamarie Geller, Alexander Palffy, Can Beser, Julie Ziobro, Neera Ghaziuddin

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引用次数: 0

摘要

摘要：这是首次报道 MED13L 单倍体缺乏综合征中的小儿紧张症综合征。该报告描述了在诊断和处理罕见遗传病中的紧张症时所面临的独特挑战。该病例还说明了电休克疗法在癫痫、癫痫性脑病或其他癫痫综合征患者中的应用，以及确定维持性电休克疗法疗程的临床难题。

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Catatonia and Maintenance Electroconvulsive Therapy in a 15-Year-Old Patient With MED13L Haploinsufficiency Syndrome in the Context of Epilepsy Diathesis.

Abstract: This is the first report of pediatric catatonia syndrome in MED13L haploinsufficiency syndrome. This report describes unique challenges in diagnosis and management of catatonia in rare genetic conditions. The case also illustrates the use of electroconvulsive therapy in patients with epilepsy, epileptic encephalopathy, or other epileptic diathesis and the clinical conundrum in determining the course of maintenance electroconvulsive therapy.

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来源期刊

Journal of Ect 医学-行为科学

CiteScore

3.70

自引率

20.00%

发文量

154

审稿时长

6-12 weeks

期刊介绍： The Journal of ECT covers all aspects of contemporary electroconvulsive therapy, reporting on major clinical and research developments worldwide. Leading clinicians and researchers examine the effects of induced seizures on behavior and on organ systems; review important research results on the mode of induction, occurrence, and propagation of seizures; and explore the difficult sociological, ethical, and legal issues concerning the use of ECT.