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.

Study design

  • A retrospective analysis of electronic medical records to educate providers in recognizing the clinical presentation of NF2 in the first decade of life.

  • Assessments: age and signs/symptoms at initial presentation, age at diagnosis, family history, clinical/radiographic features, genetic testing results, and treatment history.

Key results

  • Average age at clinical presentation: 48.1 ±34.2 months (range 2–119).

    • Children with family history of NF2 (n=5; 23%) presented earlier (mean 39.2 ±25.5 months) than those without (50.7 ±36.6 months; P=0.261) and had shorter time to diagnosis (1.6 ±3.6 vs 37.2 ±47.9 months; P=0.059).

  • Average age at NF2 diagnosis: 77.2 ±48.2 months (range 14–202); average time to diagnosis from initial presentation of 29.1 ±44.5 months (range 0–139).

  • Symptoms at presentation: 9 patients (41%) vision/eye complaints – 6 reduced vision, 2 strabismus, 1 absent red reflex; 3 (14%) each: ataxia/falls, headache, seizure; 2 (9%) nasal/tongue mass; 1 (4%) each: back/neck pain, bladder incontinence, vomiting, weakness.

  • Initial NF2 features: 7 (32%) meningiomas; 5 (23%) ocular abnormalities; 4 (18%) each: VS and cranial nerve schwannoma.

  • Abnormalities over study period:17 (77%) VS; 15 (68%) peripheral schwannomas (PS); 9 (41%) each: meningioma and ependymoma.

  • Treatment: required by 17 patients (77%), mostly for VS (n=9; 41%) or PS (n=7; 32%) and meningiomas (n=7; 32%).

  • Genetic testing available for 13 patients; 7 (54%) nonsense mutations, followed by 2 (15%) each mosaic and missense mutations, and 1 (18%) each splicing and frameshift mutations.

  • Conclusions: NF2 presentation in early childhood is uncommon but happens in a substantial number of patients; finding of meningioma or characteristic ocular abnormalities should raise suspicion for NF2 and prompt immediate referral to specialists.

Limitations

  • None reported.
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