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.
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.
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.
- None reported.
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