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一个复杂的病例:一名被诊断为Lennox-Gastaut综合征患者的精神病症状

A Complex Presentation: Psychosis in a Patient Diagnosed With Lennox-Gastaut Syndrome.

作者信息

Singh Gurraj, Gill Gurtej, Singh Satwant, Roshan Nikhita S, Lalendran Akshita, Gunturu Sasidhar

机构信息

Psychiatry, Bergen New Bridge Medical Center, Paramus, USA.

Psychiatry, BronxCare Health System, New York, USA.

出版信息

Cureus. 2024 Jul 20;16(7):e65010. doi: 10.7759/cureus.65010. eCollection 2024 Jul.

DOI:10.7759/cureus.65010
PMID:39161505
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11333143/
Abstract

Lennox-Gastaut syndrome (LGS) is a form of severe childhood epilepsy, with most children experiencing seizures before reaching the age of eight. Typically, patients have multiple types of seizures, making an accurate diagnosis challenging. While it can be secondary to other causes, often, it is idiopathic. Over time, children develop cognitive impairment, leading to intellectual disability. The mainstay of treatment and management is seizure control. However, management remains challenging due to the complexity of the syndrome, as it is associated with multiple seizure types, intellectual deterioration, and other psychiatric comorbidities. We present the case of a 19-year-old male diagnosed with LGS and treated with various available therapies, who demonstrated multiple breakthrough seizures, significant neurocognitive disabilities, and behavior challenges. Additionally, the patient displayed psychotic features of auditory hallucinations, aggression, and attempts at self-mutilation, a rare clinical presentation in LGS.

摘要

伦诺克斯-加斯东综合征(LGS)是一种严重的儿童癫痫,大多数儿童在8岁之前就会出现癫痫发作。通常情况下,患者会出现多种类型的癫痫发作,这使得准确诊断具有挑战性。虽然它可能继发于其他原因,但通常是特发性的。随着时间的推移,儿童会出现认知障碍,导致智力残疾。治疗和管理的主要手段是控制癫痫发作。然而,由于该综合征的复杂性,管理仍然具有挑战性,因为它与多种癫痫发作类型、智力衰退和其他精神共病有关。我们报告一例19岁男性被诊断为LGS并接受了各种可用治疗的病例,该患者表现出多次突破性癫痫发作、严重的神经认知残疾和行为挑战。此外,患者还表现出幻觉、攻击性和自残企图等精神病性特征,这在LGS中是一种罕见的临床表现。

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本文引用的文献

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Developing a pathway to clinical trials for -related epilepsies: A patient organization perspective.为与……相关的癫痫症制定临床试验途径:患者组织视角
Ther Adv Rare Dis. 2024 Apr 25;5:26330040241245725. doi: 10.1177/26330040241245725. eCollection 2024 Jan-Dec.
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Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.与癫痫相关的突变及其分子亚区域影响
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International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.国际抗癫痫联盟儿童期起病的癫痫综合征分类和定义:ILAE 分类和定义工作组的立场文件。
Epilepsia. 2022 Jun;63(6):1398-1442. doi: 10.1111/epi.17241. Epub 2022 May 3.
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Brain morphologic changes in early stages of psychosis: Implications for clinical application and early intervention.精神病早期的脑形态变化:对临床应用和早期干预的启示。
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Expert Opinion on the Management of Lennox-Gastaut Syndrome: Treatment Algorithms and Practical Considerations.关于伦诺克斯-加斯东综合征管理的专家意见:治疗算法与实际考量
Front Neurol. 2017 Sep 29;8:505. doi: 10.3389/fneur.2017.00505. eCollection 2017.
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Lennox-Gastaut Syndrome: A State of the Art Review.伦诺克斯-加斯托综合征:最新综述
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De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.SLC1A2和CACNA1A基因的新发突变是癫痫性脑病的重要病因。
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CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.CACNA1A基因单倍体不足会导致认知障碍、自闭症以及伴有轻度小脑症状的癫痫性脑病。
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Conceptualizing lennox-gastaut syndrome as a secondary network epilepsy.将伦诺克斯-加斯东综合征概念化为继发性网络癫痫。
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Epi4K Phase I: Gene Discovery in Epileptic Encephalopathies by Exome Sequencing.Epi4K一期研究:通过外显子组测序在癫痫性脑病中发现基因
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