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<p>The clinical spectrum of paediatric <i>NF2</i>-SWN is broad and differs from that seen in the cohort of patients presenting over age 30, where symptoms typically relate to enlarging schwannoma, meningioma or ependymoma. Paediatric cases tend to have a multisystemic presentation with a high tumour burden and significant physical and psychological morbidity. Visual impairment as well as dermatological and non-tumour neurological features are common. Genetic testing characteristically identifies a germline pathogenic variant (often truncating) in the <i>NF2</i> gene. This review explores the spectrum of clinical disease that arises in <i>NF2</i>-SWN when presenting in childhood.</p>

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The clinical spectrum of paediatric NF2- related schwannomatosis

  • 期刊论文

  • 发表日期：

    2025年11月25日

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  • Dorothy Halliday,
  • Lucy Hanington

摘要

The clinical spectrum of paediatric NF2-SWN is broad and differs from that seen in the cohort of patients presenting over age 30, where symptoms typically relate to enlarging schwannoma, meningioma or ependymoma. Paediatric cases tend to have a multisystemic presentation with a high tumour burden and significant physical and psychological morbidity. Visual impairment as well as dermatological and non-tumour neurological features are common. Genetic testing characteristically identifies a germline pathogenic variant (often truncating) in the NF2 gene. This review explores the spectrum of clinical disease that arises in NF2-SWN when presenting in childhood.