Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing, China.
Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing, China.
J Neuroimmunol. 2023 Sep 15;382:578176. doi: 10.1016/j.jneuroim.2023.578176. Epub 2023 Aug 7.
To investigate the clinical characteristics of autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy in children.
We reviewed the medical records of Children's Hospital of Chongqing Medical University from January 2020 to September 2021 and retrospectively analysed the clinical features, magnetic resonance imaging (MRI) findings, laboratory findings, treatment and outcome of children with autoimmune GFAP astrocytopathy.
Sixteen patients were included: 6 and 10 tested positive for GFAP-IgG in cerebrospinal fluid (CSF) and both CSF and serum, respectively. The median patient age was 115 months (range: 36-180 months), and 7 patients (43.8%) were male. All patients had the clinical syndrome of encephalitis/meningoencephalitis with or without myelitis: encephalitis (8), meningoencephalitis (3), encephalomyelitis (1) and meningoencephalomyelitis (4). The most common clinical symptoms were fever (11), altered consciousness (11), headache (10) and seizure (9). Four patients developed central respiratory failure for which mechanical ventilation was needed. All patients showed hyperintense T2-weighted lesions on brain MRI in the cerebral white matter (13), brainstem (11), basal ganglia (11), thalamus (9), and cerebellum (3). Nine patients (56%) had abnormal hyperintense lesions in the bilateral basal ganglia and thalamus. Six of 12 patients who underwent gadolinium-enhanced brain MRI showed abnormal enhancement images, and five of them showed linear perivascular radial enhancement. The modified Rankin scale (mRS) score decreased significantly in most patients after immunotherapy. Two patients with coexisting neural autoantibodies relapsed; however, 15 patients who were followed up successfully had favorable outcomes at the last follow-up.
Children with autoimmune GFAP astrocytopathy usually have a clinical syndrome of encephalitis/meningoencephalitis with or without myelitis. Except for the linear perivascular radial gadolinium enhancement pattern, hyperintense lesions in the bilateral basal ganglia and thalamus might be another characteristic brain MRI finding of autoimmune GFAP astrocytopathy in children. Although a few patients with coexisting neural autoantibodies might relapse, children with autoimmune GFAP astrocytopathy usually have favorable outcomes after immunotherapy.
探讨儿童自身免疫性胶质纤维酸性蛋白（GFAP）星形胶质细胞病的临床特征。
我们回顾了重庆医科大学儿童医院 2020 年 1 月至 2021 年 9 月的病历，并对自身免疫性 GFAP 星形胶质细胞病患儿的临床特征、磁共振成像（MRI）表现、实验室检查、治疗和转归进行了回顾性分析。
纳入 16 例患儿：6 例和 10 例患儿脑脊液（CSF）和 CSF 及血清中 GFAP-IgG 检测均为阳性。中位患儿年龄为 115 个月（范围：36-180 个月），7 例（43.8%）为男性。所有患儿均有脑炎/脑膜脑炎伴或不伴脊髓炎的临床综合征：脑炎（8 例）、脑膜脑炎（3 例）、脑脊髓炎（1 例）和脑膜脑炎脊髓炎（4 例）。最常见的临床症状是发热（11 例）、意识改变（11 例）、头痛（10 例）和癫痫发作（9 例）。4 例患儿发生中枢性呼吸衰竭，需要机械通气。所有患儿脑 MRI 均显示脑白质（13 例）、脑干（11 例）、基底节（11 例）、丘脑（9 例）和小脑（3 例）T2 加权高信号病变。9 例（56%）患儿双侧基底节和丘脑存在异常高信号病变。12 例行钆增强脑 MRI 检查的患儿中，6 例显示异常增强图像，其中 5 例显示线性血管周围放射状增强。免疫治疗后，大多数患儿的改良 Rankin 量表（mRS）评分显著降低。2 例合并神经自身抗体的患儿复发，但 15 例成功随访的患儿在末次随访时预后良好。
儿童自身免疫性 GFAP 星形胶质细胞病常表现为脑炎/脑膜脑炎伴或不伴脊髓炎的临床综合征。除线性血管周围放射状钆增强模式外，双侧基底节和丘脑的高信号病变可能是儿童自身免疫性 GFAP 星形胶质细胞病的另一种特征性脑 MRI 表现。虽然少数合并神经自身抗体的患儿可能复发，但儿童自身免疫性 GFAP 星形胶质细胞病患儿经免疫治疗后通常预后良好。
