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Leukoencephalopathy with calcifications and cysts: A case report with literature review

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Abstract

Leukoencephalopathy with calcifications and cysts (LCC; OMIM #614561) is a rare disease and at present there are less than 100 cases reported worldwide. Mutations in the SNORD118 gene is now known to be the cause of LCC. We present a case who was heterozygous for the n.70G>A and n.6C>T sequence variants of the SNORD118 gene, variants which to date have not been described. Compared with the cases that we reviewed, our patient had the second longest time to diagnosis (age 56) from onset of symptoms 40 years prior. Moreover, his cousin’s family has a high prevalence of epilepsy. This paper reviewed all published reports to date that had descriptive cases involving LCC as well as testing for the SNORD118 gene. Since 1996 only 85 patients have been described in 59 case reports. In this review, we summarize their clinical features, especially central nervous system symptoms, treatment, pathology, and gene testing results.

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Acknowledgements

The authors thank KingMed Diagnostics (HANGZHOU) Co., Ltd., for providing technical support for gene detection. The authors also thank doctor Zhenzhen kang, Mei Liu, Baoxi Li and Guolan Wei for supply history details and images of the patient. The authors thank Nissi S. Wang, MSc, for developmental editing of the manuscript.

Funding

This study was supported by: Zhejiang Provincial Natural Science Foundation/Youth Foundation of China under Grant No. LQ19H270002; Zhejiang Provincial Natural Science Foundation of China(LY18H270010); Zhejiang Provincial Department of Health under Grant No. 2019rc226, and Zhejiang Chinese Medical University under Grant No. 2C018290. The funding bodies did not participate in the design of the study, collection, analysis, interpretation of data, or in writing the manuscript.

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  1. Jingya Li and Chun Li contributed equally to this work

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  1. Department of Neurology, The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Chinese Medicine), 54 Youdian Road, Hangzhou, Zhejiang Province, P. R. China

    Jingya Li, Qing Zhang & Chao Qiu

  2. Department of Neurology, Anji Traditional Chinese Medical Hospital, 299 Shengli West Road,, Anji Huzhou, Zhejiang Province, P. R. China

    Chun Li

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Li, J., Li, C., Zhang, Q. et al. Leukoencephalopathy with calcifications and cysts: A case report with literature review. Neurol Sci 44, 2715–2729 (2023). https://doi.org/10.1007/s10072-023-06776-y

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