Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Department of Pediatrics, San Salvatore Hospital, L'Aquila, Italy.
Pediatr Neurol. 2023 Oct;147:24-27. doi: 10.1016/j.pediatrneurol.2023.06.012. Epub 2023 Jun 22.
Allan-Herndon-Dudley syndrome (AHDS) is caused by mutations in the SLC16A2 gene, encoding for the monocarboxylate transporter 8 (MCT8). Central hypothyroidism and chronic peripheral thyrotoxicosis result in a severe phenotype, mainly characterized by poor growth, intellectual disability, spastic tetraparesis, and movement disorders, including paroxysmal ones (startle reaction and paroxysmal dyskinesias). Seizures are rarely reported. We conducted a retrospective analysis on video electroencephalography (EEG) recordings in four subjects with AHDS, focused on paroxysmal events. Among other manifestations recorded on EEG, we diagnosed repetitive sleep starts (RSS) in all subjects. RSS are a paroxysmal nonepileptic phenomenon occurring during sleep, similar to epileptic spasms in their clinical and electromyography characteristics, but not related to any EEG change. This is the first report on RSS in AHDS. We present video-EEG polygraphic documentation, suggesting that RSS could be underestimated or misdiagnosed. The importance of a correct diagnosis is crucial in a therapeutic perspective.
Allan-Herndon-Dudley 综合征 (AHDS) 是由 SLC16A2 基因突变引起的，该基因编码单羧酸转运蛋白 8 (MCT8)。中枢性甲状腺功能减退症和慢性周围性甲状腺毒症导致严重表型，主要表现为生长不良、智力障碍、痉挛性四肢瘫痪和运动障碍，包括阵发性（惊跳反应和阵发性运动障碍）。癫痫发作很少见。我们对 4 例 AHDS 患者的视频脑电图 (EEG) 记录进行了回顾性分析，重点关注阵发性事件。在 EEG 记录的其他表现中，我们在所有患者中均诊断出重复性睡眠起始 (RSS)。RSS 是一种在睡眠期间发生的阵发性非癫痫现象，其临床和肌电图特征与癫痫痉挛相似，但与任何 EEG 变化无关。这是 RSS 在 AHDS 中的首次报道。我们展示了视频-脑电图多导记录，表明 RSS 可能被低估或误诊。从治疗角度来看，正确诊断非常重要。
