Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
Child Neuropsychiatry Unit, ASST Fatebenefratelli- Sacco, Milano, Italy.
Neuropediatrics. 2022 Feb;53(1):69-74. doi: 10.1055/s-0041-1739132. Epub 2021 Dec 1.
Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by developmental delay, polymorphic seizures, and nonepileptic episodes characterized by hemiplegia or bilateral plegia, pallor, hypotonia, and dystonic postures without loss of consciousness that resolved with sleep. Noteworthy, the patient fulfills all the diagnostic criteria for AHC. An epilepsy gene panel revealed a novel mutation. This variant may be considered a PM5, according to the American College of Medical Genetics and Genomics guidelines. gene variants are associated with various clinical features, and increasing data confirms the association with permanent and paroxysmal movement disorders. Our report suggests that the molecular analysis could be considered in the diagnostic workup of AHC patients.
儿童交替性偏瘫（AHC）是一种罕见的神经系统疾病，其特征为早期发作的复发性阵发性事件和持续的神经功能缺损。已经有研究表明， 基因突变与具有癫痫为主要临床表现的表型谱相关。在此，我们报告了一例患有发育迟缓、多形性癫痫发作和非癫痫发作的儿童病例，其特征为偏瘫或双侧瘫、苍白、低张力和扭曲姿势，但无意识丧失，睡眠后可缓解。值得注意的是，该患者符合 AHC 的所有诊断标准。癫痫基因检测发现了一种新的 突变。根据美国医学遗传学和基因组学学院的指南，该变异可能被视为 PM5。 基因突变与各种临床特征相关，越来越多的数据证实了其与永久性和阵发性运动障碍的关联。我们的报告表明， 分子分析可考虑用于 AHC 患者的诊断评估。
