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ORIGINAL RESEARCH article

Front. Neurosci.
Sec. Neurodegeneration
Volume 18 - 2024 | doi: 10.3389/fnins.2024.1448918

Retrospective review of bladder biopsy instead of skin biopsy provided clue for the diagnosis of neuronal intranuclear inclusion disease

Provisionally accepted
Jun Liu Jun Liu 1*Hu Zhenzhu Hu Zhenzhu 2Tan Weihong Tan Weihong 3*Li Ying Li Ying 1*Chen Hao Chen Hao 4*
  • 1 Guang'an People's Hospital, Guang＇an, China
  • 2 Xuzhou Cancer Hospital, Xuzhou, China
  • 3 Chengdu Medical College, Chengdu, Sichuan, China
  • 4 The Affiliated Hospital of Xuzhou Medical University, Xuzhou, Jiangsu Province, China

The final, formatted version of the article will be published soon.

    The purpose of this study is to present a case of a patient with a negative skin biopsy who was diagnosed with neuronal intranuclear inclusion disease (NIID) through a retrospective review of a bladder biopsy specimen obtained ten years ago. The patient initially presented with encephalitis-like symptoms, including fever, headache, and abnormal mental behavior. However, the DWI hyperintensity in the corticomedullary junction indicated the possibility of NIID. Due to the negative results of the skin biopsy, we initially refrained from hastily diagnosing the patient with NIID. However, six months later, the patient was readmitted to the hospital due to similar symptoms, and a follow-up MRI showed significant enlargement of the lesions at the corticomedullary junction. This time we identified intranuclear inclusions in her tissue specimens from bladder surgery. Subsequently, genetic testing was performed, leading to the diagnosis of NIID in the patient. Our case report indicates that detecting intranuclear inclusions from previous surgical specimens, rather than relying solely on skin biopsy, could significantly enhance diagnostic methods for NIID.

    Keywords: NIID, Skin biopsy, Bladder biopsy, encephalitic episode and case report, MRI

    Received: 14 Jun 2024; Accepted: 24 Jul 2024.

    Copyright: © 2024 Liu, Zhenzhu, Weihong, Ying and Hao. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Jun Liu, Guang'an People's Hospital, Guang＇an, China
    Tan Weihong, Chengdu Medical College, Chengdu, 610500, Sichuan, China
    Li Ying, Guang'an People's Hospital, Guang＇an, China
    Chen Hao, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, Jiangsu Province, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.