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Epilepsy in children with leukodystrophies

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Abstract

Background

Epilepsy might be one of the manifestations in children with leukodystrophies, but the incidence of epilepsy in different types of leukodystrophies is unclear yet.

Methods

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.

Results

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.

Conclusions

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.

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Acknowledgements

This study was supported by the National Science and Technology Major Project of the Ministry of Science and Technology of China (Grant no. 2017ZX09304029-006), National Natural Science Foundation of China (Grant no. 81741053), National Key Research and Development Program of China (Grant nos. 2016YFC0901505 and 2016YFC1306201), Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases (Grant no. BZ0317) and Research Seed Fund of Peking University First Hospital (Grant no. 2019SF14).

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Authors and Affiliations

  1. Department of Pediatrics, Peking University First Hospital, No. 1 Xi’an Men Street, West District, Beijing, 100034, China

    Jie Zhang, Tingting Ban, Ling Zhou, Haoran Ji, Huifang Yan, Zhen Shi, Binbin Cao, Yuwu Jiang, Jingmin Wang & Ye Wu

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  1. Jie Zhang
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  2. Tingting Ban
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  3. Ling Zhou
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  5. Huifang Yan
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  6. Zhen Shi
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  7. Binbin Cao
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  8. Yuwu Jiang
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  9. Jingmin Wang
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  10. Ye Wu
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Correspondence to Ye Wu.

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The authors declare no financial or other conflicts of interest.

Ethical standards

The study was approved by the clinical research ethics committee of the Peking University First Hospital. Written informed consents were obtained from the parents.

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Zhang, J., Ban, T., Zhou, L. et al. Epilepsy in children with leukodystrophies. J Neurol 267, 2612–2618 (2020). https://doi.org/10.1007/s00415-020-09889-y

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