Anti-Purkinje Cell Cytoplasmic Antibody Type 2-Associated Autoimmune Cerebellar Degeneration in Children: A Different Phenotype From Adults

IF 3.2 3区 医学 Q2 CLINICAL NEUROLOGY
Anna Zhou MD , Haitao Ren MD , Libing Fu MD , Changhong Ren MD , Ji Zhou MD , Hongzhi Guan MD , Xiaotun Ren MD , Weihua Zhang MD
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Abstract

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.

儿童的抗浦肯野细胞胞浆抗体 2 型相关自身免疫性小脑变性--与成人不同的表型
背景抗普肯野细胞胞浆抗体 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开展。本研究旨在描述儿科患者中与PCA-2相关的自身免疫性小脑变性的临床特征和结局。方法从2015年6月至2022年9月,本研究共招募了357名患有急性或亚急性小脑共济失调的儿科患者。其中,4名患者被鉴定为PCA-2。本研究的患者队列包括两名男孩和两名女孩,发病年龄为6至12岁。轴性共济失调是整个患者群中最显著的症状(四人中有四人),其次是构音障碍(四人中有三人,占 75%)、构音障碍(四人中有两人,占 50%)和眼球震颤(四人中有一人,占 25%)。一名患者出现认知障碍。两名患者出现小脑外症状--周围神经病变。一名患者在共济失调发病前被诊断出患有盆腔神经母细胞瘤。脑脊液中证实存在寡克隆带,并观察到小脑萎缩。四名患者在确诊后都立即接受了免疫治疗,包括糖皮质激素和/或静脉注射免疫球蛋白,三名患者接受了霉酚酸酯治疗。结论 在儿童中,PCA2相关自身免疫性小脑变性是罕见的,他们表现出的症状也比成人少。及时、适当的免疫治疗是有益的。
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来源期刊
Pediatric neurology
Pediatric neurology 医学-临床神经学
CiteScore
4.80
自引率
2.60%
发文量
176
审稿时长
78 days
期刊介绍: Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system. Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.
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