As most young children with neurofibromatosis type 2 (NF2) do not initially present with vestibular schwannomas, it is important to consider this diagnosis in children with the characteristic ocular abnormalities or a meningioma, according to the largest series of young pediatric patients with NF2, published in Neurology.

The hallmark of NF2 is the occurrence of bilateral vestibular schwannomas, but these patients can also develop numerous other central and peripheral nervous system tumors, including meningiomas and ependymomas. Although vestibular schwannoma is usually present in teenagers and adults with NF2, in younger children, other signs and symptoms, such as ocular findings (cataracts, retinal hamartoma, and epiretinal membranes), might appear initially, and for that reason, the diagnosis of NF2 may be missed or delayed.

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The goal of this study was to assess the clinical presentation of NF2 during the first decade of life, based on data from 4 pediatric NF2 referral centers.

The retrospective study included analysis of electronic medical records for patients diagnosed with NF2 before 10 years of age and followed between 1997 and 2018. Data analysis included patient sex, race, age at presentation, signs or symptoms at presentation, clinical and radiographic NF2 features, tumor location, treatment, age at NF2 diagnosis, family history of NF2, and results of NF2 genetic testing.

The study cohort included 22 patients (mean age at presentation, 48.1±34.2 months; 13 boys). The mean age at NF2 diagnosis was 77.2±48.2 months), with an average time to diagnosis from initial presentation of 29.1±44.5 months.

Positive family history of NF2 was documented in 5 patients (23%), and children with positive family history tended to present earlier (39.2±25.5 months vs 50.7±36.6 months, P =.261) with a shorter interval to NF2 diagnosis (1.6±3.6 months vs 37.2±47.9 months; P =.059).

Vision or eye complaints were the most commonly reported initial signs or symptoms (n=9; 41%), followed by ataxia or falls (n=3; 14%), headaches (n=3; 14%), and seizures (n=3; 14%). Meningiomas (n=7; 32%) and ocular findings (n=5; 23%) were the most commonly identified initial NF2 clinical features.

During the study period, individuals were most frequently diagnosed with vestibular (n=17; 77%) and peripheral nerve (n=15; 68%) schwannomas. Other identified NF2 features included ependymoma (n=9; 41%), meningioma (n=9; 41%), and other cranial nerve schwannomas (n=7; 32%).

Treatment for VF2 was given to 17 children (77%), with children were most commonly treated for vestibular schwannomas (n=9; 41%), peripheral schwannomas (n=7; 32%), and meningiomas (n=7; 32%).

NF2 genetic testing was available for 13 children and revealed 7 (54%) nonsense, 2 (15%) mosaic, 2 (15%) missense, 1 (8%) splicing, and 1 (8%) frameshift mutation.

“[D]iagnosis of NF2 [should] be strongly considered in a child who comes to medical attention with any of the characteristic NF2-related ocular abnormalities (retinal hamartomas, epiretinal membranes, subcapsular cataracts) or with a meningioma,” concluded the researchers.

Reference

Gaudioso C, Listernick R, Fisher MJ, Campen CJ, Paz A, Gutmann DH. Neurofibromatosis 2 in children presenting during the first decade of life. Neurology. doi:10.1212/WNL.0000000000008065.