Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, 410008, Hunan Province, China.
Clinical Research Center for Children Neurodevelopmental disabilities of Hunan Province, Central South University, XiangyaHospital, Changsha, 410008, China.
Ital J Pediatr. 2024 Aug 26;50(1):158. doi: 10.1186/s13052-024-01727-5.
Contactin-associated protein-2(CASPR2) antibody-associated autoimmune encephalitis(AE) is rare in children. This study aimed to report the clinical characteristics and long-term outcome of CASPR2 autoimmunity in children to expand the disease spectrum.
Children who were hospitalized in our hospital with clinically suspected AE from May 2015 to April 2022 and underwent neuronal surface antibodies detections were retrospectively analyzed. Clinical data of patients with CASPR2 autoimmunity were collected.
Patients who were positive for NMDAR-IgG, CASPR2-IgG, LGI1-IgG and IgLON5-IgG occupied 95.2%(119/125),3.2%(4/125),0.8%(1/125) and 0.8%(1/125), respectively.The median onset age of the 4 patients with CASPR2-IgG was 5.6 years. The most common symptoms were psychiatric symptoms/abnormal behavior(3/4) and sleep dysfunction(3/4). One patient developed a phenotype of Rasmussen encephalitis(RE). Tumor was absent in our patients. Two patients showed abnormal findings on initial brain magnetic resonance imaging(MRI) scans. All the patients showed favorable response to immunotherapy except the patient with RE experienced recurrent symptoms who finally achieved remission after surgery. All the patients had a favorable long-term outcome at the last follow-up(33-58months).
CASPR2 autoimmunity may be the second most common anti-neuronal surface antibodies associated neurological disease in children. Psychiatric symptoms/abnormal behavior and sleep disorder were common in children with CASPR2-associated AE. Tumor was rare in those patients. Most pediatric patients had a favorable long-term outcome.
接触蛋白相关蛋白-2（CASPR2）抗体相关自身免疫性脑炎（AE）在儿童中较为罕见。本研究旨在报告儿童 CASPR2 自身免疫的临床特征和长期预后，以扩展疾病谱。
回顾性分析 2015 年 5 月至 2022 年 4 月因临床疑似 AE 住院且接受神经元表面抗体检测的患儿，收集 CASPR2 自身免疫患儿的临床资料。
抗 NMDAR-IgG、CASPR2-IgG、LGI1-IgG 和 IgLON5-IgG 阳性的患儿分别占 95.2%（119/125）、3.2%（4/125）、0.8%（1/125）和 0.8%（1/125）。4 例 CASPR2-IgG 阳性患儿的中位发病年龄为 5.6 岁。最常见的症状为精神症状/行为异常（3/4）和睡眠功能障碍（3/4）。1 例患儿表现为 Rasmussen 脑炎（RE）表型。我们的患儿均无肿瘤。2 例患儿初始脑磁共振成像（MRI）检查发现异常。除 1 例 RE 患儿症状复发外，免疫治疗均显示良好反应，最终手术缓解。所有患儿末次随访时均预后良好（33-58 个月）。
CASPR2 自身免疫可能是儿童中第二常见的抗神经元表面抗体相关神经疾病。精神症状/行为异常和睡眠障碍是儿童 CASPR2 相关 AE 的常见症状。这些患儿的肿瘤罕见。大多数儿科患者有良好的长期预后。
