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Similarities and differences between infantile and early childhood onset vanishing white matter disease

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Abstract

Vanishing white matter disease (VWM) is one of the most prevalent inherited leukoencephalopathies in childhood. Infantile VWM is more severe but less understood than the classic early childhood type. We performed a follow-up study on 14 infantile and 26 childhood patients to delineate the natural history and neuroimaging features of VWM. Infantile and childhood patients shared similarities in the incidence of epileptic seizure (35.7 vs. 38.5%) and episodic aggravation (92.9 vs. 84.6%). Developmental delay before disease onset was more common in infantile patients. Motor disability was earlier and more severe in infantile VWM. In survivors with disease durations of 1–3 years, the Gross Motor Function Classification System (GMFCS) was classified as IV–V in 66.7% of infantile and only 29.4% of childhood patients. Kaplan–Meier survival curve analysis indicated that the 5-year survival rates were 21.6 and 91.3% in infantile and childhood VWM, respectively. In terms of MRI, infantile patients showed more extensive involvement and earlier rarefaction, with more common involvement of subcortical white matter, internal capsule, brain stem and dentate nuclei of the cerebellum. Restricted diffusion was more diffuse or extensive in infantile patients. In addition, four novel mutations were identified. In conclusion, we identified some similarities and differences in the natural history and neuroimaging features between infantile and early childhood VWM.

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Acknowledgements

This study was supported by Beijing key laboratory (BZ0317), the National Key Research and Development Program of China (Nos. 2016YFC0901505, 2016YFC1306201), and the Public Foundation of Beijing Center of Neural Regeneration and Repair.

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Authors and Affiliations

  1. Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China

    Ling Zhou, Haihua Zhang, Na Chen, Zhongbin Zhang, Ming Liu, Lifang Dai, Jingmin Wang, Yuwu Jiang & Ye Wu

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  1. Ling Zhou
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  2. Haihua Zhang
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  3. Na Chen
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  4. Zhongbin Zhang
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  5. Ming Liu
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  8. Yuwu Jiang
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  9. Ye Wu
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Correspondence to Ye Wu.

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The authors declare no financial or other conflicts of interest.

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This study was approved by the clinical research ethics committee of Peking University First Hospital, and informed consent forms were signed by the parents.

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Zhou, L., Zhang, H., Chen, N. et al. Similarities and differences between infantile and early childhood onset vanishing white matter disease. J Neurol 265, 1410–1418 (2018). https://doi.org/10.1007/s00415-018-8851-6

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  • DOI: https://doi.org/10.1007/s00415-018-8851-6

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