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15 岁患者伴 MED13L 杂合性不足综合征及癫痫素质,表现为紧张症和维持电抽搐治疗。

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

机构信息

From the Department of Psychiatry, Division of Child and Adolescent Psychiatry, University of Michigan, Ann Arbor, MI.

Department of Pediatrics, Division of Pediatric Neurology, University of Michigan, Ann Arbor, MI.

出版信息

J ECT. 2024 Sep 1;40(3):201-202. doi: 10.1097/YCT.0000000000001049. Epub 2024 Jul 4.

DOI:10.1097/YCT.0000000000001049
PMID:38968441
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.

摘要

这是 MED13L 杂合不足综合征中儿童紧张症综合征的首例报告。本报告描述了在罕见遗传疾病中诊断和管理紧张症所面临的独特挑战。该病例还说明了电惊厥疗法在癫痫、癫痫性脑病或其他癫痫素质患者中的应用,以及在确定维持性电惊厥疗法的疗程时所面临的临床难题。

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