Clinical features of neurofibromatosis 2 in children presenting before age 10

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Takeaway

  • Neurofibromatosis 2 (NF2) should be suspected in young children presenting with meningiomas or certain ocular abnormalities (including retinal hamartomas, epiretinal membranes, and subcapsular cataracts); these children should be referred to specialists for diagnosis and management.

Why this matters

  • Vestibular symptoms secondary to bilateral vestibular schwannomas (VS) are known hallmarks of NF2 in teens/young adults, but diagnosis of NF2 in early childhood may be missed or delayed as most young children with NF2 do not present with VS.

  • This guidance on when to suspect NF2 could result in more timely diagnosis and treatment.

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