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Abstract
Objective To educate providers to recognize the clinical presentation of neurofibromatosis 2 (NF2) in young children.
Methods A retrospective analysis of 22 children with NF2 from 4 tertiary care NF referral centers was performed. Age and signs/symptoms at initial presentation, age at NF2 diagnosis, family history, clinical/radiographic NF2 features, NF2 genetic testing results, and treatments were assessed.
Results The average age at initial clinical presentation was 48.1 months, while the average age at NF2 diagnosis was 77.2 months. Children with a family history of NF2 (23%) tended to present earlier (mean 39.2 vs 50.7 months) and have shorter times to NF2 diagnosis (mean 1.6 vs 37.2 months). Vision/eye complaints (n = 9; 41%) were the most commonly reported presenting signs/symptoms. Meningiomas (n = 7; 32%) and ocular abnormalities (n = 5; 23%) were the most frequently identified initial NF2 features. Vestibular (n = 17; 77%) and peripheral (n = 15; 68%) schwannomas were the most common abnormalities encountered over the study period. Seventeen (77%) children required treatment, most frequently for vestibular schwannomas (n = 9; 41%), peripheral schwannomas (n = 7; 32%), and meningiomas (n = 7; 32%). Genetic testing was available for 13 individuals, in whom nonsense mutations were most commonly identified (n = 7; 54%).
Conclusions Although uncommon, a substantial number of individuals with NF2 come to medical attention in early childhood. The finding of meningioma or characteristic ocular abnormalities (retinal hamartomas and epiretinal membranes) in young children should raise clinical suspicion for NF2 and prompt immediate referral to appropriate specialists for diagnosis and management.
Glossary
- CHOP=
- The Children's Hospital of Philadelphia;
- CHRRPE=
- combined hamartoma of the retina and retina pigment epithelium;
- LCH=
- Lurie Children's Hospital of Chicago;
- LPCH=
- Lucile Packard Children's Hospital Stanford;
- NF=
- neurofibromatosis;
- NF2=
- neurofibromatosis 2;
- PHPV=
- persistent hyperplastic primary vitreous;
- VS=
- vestibular schwannomas;
- WUSM=
- Washington University School of Medicine
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
CME Course: NPub.org/cmelist
- Received February 1, 2019.
- Accepted in final form April 8, 2019.
- © 2019 American Academy of Neurology
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