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Association of Kabuki syndrome and tethered cord syndrome: a report of three cases and literature review

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Abstract

Kabuki syndrome (KS) is a congenital disorder characterized by distinctive facial features, skeletal and dermatoglyphic abnormalities, mild-to-moderate intellectual disability, and postnatal growth deficiency. Recently, mutations in the KMT2D and KDM6A genes have been identified as the causative factors in most KS cases. In this study, we present three cases of KS associated with tethered cord syndrome. All cases had a sacral dimple, which is a skin stigmata, and radiological abnormalities, including fatty or thickened filum terminale. Untethering surgery was performed and clinical improvement was achieved. Although in the association between KS and closed neural tube defect (NTD) has rarely been discussed, we emphasize that sacral dimples in KS and tethered cord syndrome are not uncommon. The KS patients with sacral dimple must be carefully investigated by radiological examination and urological study if there is abnormality. Further understanding of the genetic mechanism underlying KS might provide a novel insight on the correlation between the genetics and development of closed NTDs.

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Abbreviations

KS:

Kabuki syndrome

NTD:

Neural tube defect

MRI:

Magnetic resonance imaging

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Acknowledgments

We thank Enago for English editing. We also thank Dr. Takayuki Inagaki and Dr. Goichiro Tamura for their suggestive comments.

Funding

This work was supported by JSPS KAKENHI Grant Number18K08935.

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Authors and Affiliations

  1. Department of Neurosurgery, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, 305-8575, Japan

    Ai Muroi, Takao Tsurubuchi, Kazuaki Tsukada & Eiichi Ishikawa

  2. Department of Pediatrics, Faculty of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan

    Takashi Enokizono & Tatsuyuki Ohto

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  1. Ai Muroi
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  2. Takashi Enokizono
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  3. Takao Tsurubuchi
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  6. Eiichi Ishikawa
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Correspondence to Ai Muroi.

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Consent for case series was waived by the ethics committee at our institution.

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Muroi, A., Enokizono, T., Tsurubuchi, T. et al. Association of Kabuki syndrome and tethered cord syndrome: a report of three cases and literature review. Childs Nerv Syst 37, 1339–1343 (2021). https://doi.org/10.1007/s00381-020-04813-1

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  • DOI: https://doi.org/10.1007/s00381-020-04813-1

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