Department of Pediatrics, Peking University First Hospital, No. 1 Xi'an Men Street, West District, Beijing, 100034, China.
J Neurol. 2020 Sep;267(9):2612-2618. doi: 10.1007/s00415-020-09889-y. Epub 2020 May 9.
Epilepsy might be one of the manifestations in children with leukodystrophies, but the incidence of epilepsy in different types of leukodystrophies is unclear yet.
A retrospective observational cohort study was performed on children diagnosed with leukodystrophies in Peking University First Hospital from January 2004 to June 2019, and the patients were followed for 5.5 years (0.4-14.2 years) after the first visit.
A total of 333 patients were included. The overall incidence of epilepsy was 30.6% (102/333). Alexander disease had the highest incidence (77.3%, 51/66), followed by vanishing white matter disease (41.2%, 21/51), Canavan disease (33.3%, 1/3), megalencephalic leukoencephalopathy with subcortical cysts (32.1%, 9/28), X-linked adrenoleukodystrophy (23.1%, 3/13), Krabbe disease (18.8%, 3/16), metachromatic leukodystrophy (14.3%, 6/42), and Pelizaeus-Merzbacher disease (7.0%, 8/114). The incidence of epilepsy in leukodystrophies classified as astrocytopathies was higher than that in myelin disorders (55.9% vs. 11.2%, P < 0.001). Of the 102 patients with epilepsy, seizures were the chief complaint in 61.8% (63/102) and the initial symptom in 22.5% (23/102). The median age at seizure onset was 20.5 months (1 day-176 months). A total of 63.7% (65/102) of children were treated with antiepileptic drugs (AEDs), and the responder rate was 90.8% (59/65) at the last follow-up, including 71.2% (42/59) of children who were seizure free.
Epilepsy was not uncommon in children with leukodystrophies. Children with Alexander disease had the highest incidence; whereas, children with Pelizaeus-Merzbacher disease had the lowest incidence. Children with leukodystrophies classified as astrocytopathies were more prone to have epilepsy than those classified as myelin disorders. Most children with leukodystrophies who presented with epilepsy showed a good response to antiepileptic drugs.
癫痫可能是脑白质营养不良患儿的一种表现，但不同类型脑白质营养不良癫痫的发病率尚不清楚。
对 2004 年 1 月至 2019 年 6 月期间在北京大学第一医院诊断为脑白质营养不良的患儿进行回顾性观察队列研究，在首次就诊后对患儿进行 5.5 年（0.4-14.2 年）的随访。
共纳入 333 例患儿。癫痫总发病率为 30.6%（102/333）。Alexander 病发病率最高（77.3%，51/66），其次为脑白质消融症（41.2%，21/51）、Canavan 病（33.3%，1/3）、巨脑白质脑病伴皮质下囊肿（32.1%，9/28）、X 连锁肾上腺脑白质营养不良（23.1%，3/13）、Krabbe 病（18.8%，3/16）、异染性脑白质营养不良（14.3%，6/42）、Pelizaeus-Merzbacher 病（7.0%，8/114）。星形细胞瘤脑白质营养不良患儿癫痫发病率高于脱髓鞘脑白质营养不良患儿（55.9% vs. 11.2%，P<0.001）。在 102 例癫痫患儿中，61.8%（63/102）以癫痫发作为首发症状，22.5%（23/102）为首发症状。癫痫发作的中位年龄为 20.5 个月（1 天-176 个月）。共有 63.7%（65/102）的患儿接受了抗癫痫药物（AED）治疗，末次随访时的应答率为 90.8%（59/65），其中 71.2%（42/59）的患儿无癫痫发作。
癫痫在脑白质营养不良患儿中并不少见。Alexander 病患儿发病率最高，Pelizaeus-Merzbacher 病患儿发病率最低。星形细胞瘤脑白质营养不良患儿较脱髓鞘脑白质营养不良患儿更易发生癫痫。大多数以癫痫发作为首发症状的脑白质营养不良患儿对抗癫痫药物治疗反应良好。
