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Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature

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Abstract

Background

Ring chromosome 18 (r[18]) is a rare syndrome in which one or both ends of chromosome 18 are lost and the remaining chromosome rejoins to form ring-shaped figures. It is characterized by developmental delay/cognitive disability, facial dysmorphisms, and immunological problems. The phenotype associated with epilepsy is rare and has not yet been reported in China.

Methods

We report herein the case of a 12-year-old Chinese girl who presented with typical facial dysmorphisms, developmental delay, cognitive disability, hyperactivity, and epilepsy and discuss the clinical features of r(18) syndromes through comparison with previously described cases worldwide.

Results

We describe the characteristics of all seizures that have been reported in these cases and propose that the appearance of epilepsy in r(18) patients may be associated with the abnormality of chromosome karyotypes. Further studies are warranted to confirm this.

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Data availability

Data sharing is not applicable to this article as no new data were created or analyzed in this study.

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Funding

This work was supported by the National Key Research and Development Program of China (#2018YFC1312003), the Program of National Natural Science Foundation of China (#81671120, #81300981, #81250015), the Natural Science Fund for Distinguished Young Scholars of Hunan Province, China (#2020JJ2057), and the Project Program of National Clinical Research Center for Geriatric Disorders (Xiangya Hospital, #2020LCJJ13).

Author information

Author notes

  1. Jing Wang and Ling Xiao contributed equally to this work.

Authors and Affiliations

  1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People’s Republic of China

    Ling Xiao, Junling Wang, Jie Ni & Xiaoyan Long

  2. Laboratory of Medical Genetics, Central South University, Changsha, Hunan, People’s Republic of China

    Junling Wang & Jie Ni

  3. Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, People’s Republic of China

    Junling Wang

  4. National Clinical Research Centre for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, Hunan, People’s Republic of China

    Junling Wang

  5. Department of Neurology, Dingxi Second People’s Hospital, Dingxi, Gansu, People’s Republic of China

    Jing Wang

  6. Department of Anesthesiology, Xiangya Hospital, Central South University, Changsha, Hunan, People’s Republic of China

    Zijin Ding

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  1. Jing Wang
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Corresponding author

Correspondence to Xiaoyan Long.

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This study received ethical approval from the Ethics Committee of Xiangya Hospital of Central South University.

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The child’s guardians provided written informed consent for publication and a blood sample for DNA extraction.

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Wang, J., Xiao, L., Wang, J. et al. Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature. Neurol Sci 42, 5231–5239 (2021). https://doi.org/10.1007/s10072-021-05143-z

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  • DOI: https://doi.org/10.1007/s10072-021-05143-z

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