Abstract
Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth syndrome associated with certain childhood tumours. We present the case of a 36-year-old lady with BWS who developed a left frontoinsular secondary glioblastoma. This is the first case report in the literature of glioblastoma associated with BWS. We explore similarities in the molecular pathomechanisms of BWS and glioblastoma.
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All the authors contributed to the manuscript conception and design. The first draft of the manuscript was written by Peter Weir, Ashwin Kumaria, and Alhassan Mohmed. All the authors have been involved in providing feedback on previous drafts, in addition to reading and approving the final manuscript.
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This case report was written in accordance with COPE guidelines and comply with the CARE statement. The manuscript is written in accordance with the 1964 WMA Declaration Of Helsinki. All the procedures being performed and treatment received were part of the routine care. The patient and her family kindly provided consent for the reporting of her case, including imaging and histology. Anonymity is guaranteed in keeping with Information Governance stipulations of the National Health Service.
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The patient’s mother has kindly provided informed consent for publication of her case and for use of her imaging and patient anonymity is hereby respected. This is confirmed in an entry in the patient’s medical notes.
Receipt of patient consent is guaranteed by Mr Ashwin Kumaria.
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Weir, P., Kumaria, A., Mohmed, A. et al. Glioblastoma in Beckwith-Wiedemann syndrome: first case report and review of potential pathomechanisms. Acta Neurochir 164, 419–422 (2022). https://doi.org/10.1007/s00701-021-05105-6
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DOI: https://doi.org/10.1007/s00701-021-05105-6