背景:抗浦肯野细胞胞浆抗体2型(PCA-2)与成人的各种神经系统疾病有关。然而,相关研究尚未在儿童中进行。本研究旨在描述儿科患者PCA-2相关自身免疫性小脑变性的临床特征和结果。
方法:2015年6月至2022年9月,共招募357例急性或亚急性小脑共济失调的儿科患者参与研究。其中,在四名患者中鉴定出PCA-2。关于临床表现的信息,患者对治疗的反应,收集并分析结果.
结果:本研究的患者队列包括两个男孩和两个女孩,发病年龄从6岁到12岁。轴性共济失调是在整个患者队列中观察到的最显著的症状(四个中的四个),紧随其后的是75%(四分之三)的疾病,50%的构音障碍(四个中的两个),和眼球震颤25%(4名患者中的1名)。一名患者存在认知障碍。周围神经病变,这是一种脑外症状,在两名患者中发现。一名患者在共济失调发作之前被诊断为盆腔神经母细胞瘤。脑脊液中证实了寡克隆带的存在,观察到小脑萎缩。免疫疗法,包括糖皮质激素和/或静脉注射免疫球蛋白,在诊断后立即对所有四名患者进行了治疗,对3例患者给予霉酚酸酯。三名患者对免疫疗法有反应。
结论:在儿童中,PCA2相关的自身免疫性小脑变性是罕见的,他们表现出的症状比成年人少。及时和适当的免疫治疗是有益的。
BACKGROUND: Anti-Purkinje cell cytoplasmic antibody type 2 (PCA-2) is associated with various neurological conditions in adults. However, related studies have not been conducted in children. The present study aimed to characterize the clinical features and outcomes of PCA-2-related autoimmune cerebellar degeneration in pediatric patients.
METHODS: A total of 357 pediatric patients with acute or subacute cerebellar ataxia were recruited for the study from June 2015 to September 2022. Of these, PCA-2 was identified in four patients. Information on the clinical manifestations, patient response to treatment, and outcomes was collected and analyzed.
RESULTS: The patient cohort in the present study included two boys and two girls, with the age of onset from six to 12 years. Axial ataxia was the most remarkable symptom observed in the entire patient cohort (four of four), followed by dysmetria in 75% (three of four), dysarthria in 50% (two of four), and nystagmus in 25% (one of four) of patients. Cognitive impairment was present in one patient. Peripheral neuropathy, which is an extracerebellar symptom, was found in two patients. One patient was diagnosed with a pelvic neuroblastoma before the onset of ataxia. The presence of oligoclonal bands was confirmed in the cerebrospinal fluid, and cerebellar atrophy was observed. Immunotherapy, including glucocorticoids and/or intravenous immunoglobulin, was administered to all four patients immediately following diagnosis, and mycophenolate mofetil was administered to three patients. Three patients responded to immunotherapy.
CONCLUSIONS: In children, PCA2-associated autoimmune cerebellar degeneration is rare, and they show comparatively fewer symptoms than adults. Timely and appropriate immunotherapy is beneficial.