Méndez-Álvarez Alma D, Meneses-León Karla P, Monsalvo-Soler Dira B, Morales-Segundo Alondra M, Gómez-Virgilio Laura, López-Toledo Gustavo
Facultad de Medicina, Universidad Nacional Autónoma de México (UNAM), 04510 Ciudad de México, México.
Coordinación de Investigación, Hospital Ángeles Lindavista, 07760 Ciudad de México, México.
Rev Neurol. 2025 May 27;80(4):42643. doi: 10.31083/RN42643.
Landau-Kleffner syndrome is a developmental epileptic encephalopathy that manifests mainly in pediatric patients, characterized by verbal auditory agnosia and focal, bilateral, and focal and diffuse epileptic activity, visualized through electroencephalographic recordings performed during sleep. It is a rare syndrome with a variable, multifactorial presentation and unknown etiology, although it has a genetic component in some cases. It is often associated with variants of the glutamate ionotropic receptor N-methyl-D-aspartate (NMDA) type subunit 2A (GRIN2A) gene, which encodes an NMDA receptor subunit of the same name that is involved in various neurophysiological processes. Modifications to this receptor could be associated with the clinical manifestations observed in patients. This review proposes a pathophysiological mechanism related to one of the clinical presentations of this disease, using information published in recent years, and contributes to the understanding of its pathology and the improvement of its management. This syndrome is a rare and complex disease; both its diagnosis and treatment are challenging, limiting patients' therapeutic options and compromising their quality of life.
Landau-Kleffner综合征是一种主要发生在儿科患者中的发育性癫痫性脑病，其特征为言语听觉失认以及局灶性、双侧性和局灶性与弥漫性癫痫活动，可通过睡眠期间进行的脑电图记录观察到。它是一种罕见的综合征，表现多样且具有多因素性，病因不明，尽管在某些情况下具有遗传成分。它常与谷氨酸离子型受体N-甲基-D-天冬氨酸（NMDA）2A亚基（GRIN2A）基因的变异有关，该基因编码一种同名的NMDA受体亚基，参与各种神经生理过程。该受体的改变可能与患者观察到的临床表现有关。本综述利用近年来发表的信息，提出了一种与该疾病临床表现之一相关的病理生理机制，有助于理解其病理并改善其管理。这种综合征是一种罕见且复杂的疾病；其诊断和治疗都具有挑战性，限制了患者的治疗选择并损害了他们的生活质量。
