Wang Fenhua, Shi Ruonan, Xu Xiangping
Department of Pediatrics, The First Affiliated Hospital, Harbin Medical University, Heilongjiang, China.
Neurol Sci. 2025 Sep 18. doi: 10.1007/s10072-025-08480-5.
To summarize the clinical manifestations, electroencephalographic and imaging characteristics of pediatric-onset Huntington's disease (PoHD), and to evaluate the therapeutic potential of aripiprazole for PoHD.
We conducted a retrospective analysis of clinical and genetic data from a PoHD patient diagnosed and treated at the Department of Pediatrics, First Affiliated Hospital of Harbin Medical University, with a systematic evaluation of the therapeutic efficacy through of aripiprazole longitudinal follow-up.
The patient presented with pre-school-onset manifestations characterized by choreiform movements and gait instability, progressing to near-complete motor loss within 6 months, accompanied by sleep initiation difficulties from persistent chorea. Cranial magnetic resonance imaging (MRI) revealed cerebellar tonsillar atrophy while interictal electroencephalogram (EEG) demonstrated epileptiform discharges localized to the left occipitotemporal region, characterized by spikes, spike-and-slow-wave complexes, and sharp-and-slow-wave complexes. Molecular analysis confirmed an expanded CAG repeat (99 repeats) in the pathogenic allele. Significant amelioration of sleep architecture was observed within two weeks of aripiprazole initiation, followed by progressive improvements in voluntary motor control and a marked decrease in choreiform movements at the 4-month follow-up assessment.
PoHD is epidemiologically rare and has nonspecific clinical manifestations. Early implementation of CAG repeat expansion analysis enables precise diagnosis. Aripiprazole alleviates motor and psychiatric symptoms and has favourable tolerability in patients with PoHD.
总结儿童期起病的亨廷顿舞蹈病（PoHD）的临床表现、脑电图及影像学特征，并评估阿立哌唑对PoHD的治疗潜力。
我们对哈尔滨医科大学附属第一医院儿科诊断并治疗的一名PoHD患者的临床和基因数据进行了回顾性分析，并通过阿立哌唑纵向随访对治疗效果进行了系统评估。
该患者学龄前起病，以舞蹈样动作和步态不稳为特征，6个月内进展为几乎完全运动丧失，因持续性舞蹈症出现入睡困难。头颅磁共振成像（MRI）显示小脑扁桃体萎缩，而发作间期脑电图（EEG）显示癫痫样放电定位于左侧枕颞区，特征为棘波、棘慢复合波和尖慢复合波。分子分析证实致病等位基因中CAG重复序列扩增（99次重复）。开始使用阿立哌唑两周内观察到睡眠结构显著改善，随后在4个月的随访评估中，自主运动控制逐渐改善，舞蹈样动作明显减少。
PoHD在流行病学上较为罕见，临床表现不具特异性。早期进行CAG重复序列扩增分析可实现精准诊断。阿立哌唑可缓解运动和精神症状，对PoHD患者具有良好的耐受性。
