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Neurofibromatosis 2 in children presenting during the first decade of life. | LitMetric

Neurofibromatosis 2 in children presenting during the first decade of life.

Neurology

From the Department of Neurology (C.G., D.H.G.), Washington University School of Medicine, St. Louis, MO; Ann & Robert H. Lurie Children's Hospital of Chicago (R.L.), Feinberg School of Medicine, Northwestern University, IL; Division of Oncology (M.J.F., A.P.), Children's Hospital of Philadelphia, PA; and Department of Neurology (C.J.C.), Stanford University, Palo Alto, CA.

Published: September 2019

AI Article Synopsis

  • The objective of the study was to train healthcare providers to identify the signs of neurofibromatosis 2 (NF2) in young children, focusing on a retrospective analysis of 22 cases.
  • Key findings revealed that the average age of initial presentation was 48.1 months, with family history influencing earlier diagnosis; common symptoms included vision issues, and most abnormalities were found in vestibular and peripheral schwannomas.
  • Conclusions suggest that while NF2 is rare, doctors should be vigilant for symptoms like meningiomas and ocular abnormalities in young kids, as these can indicate the need for immediate specialist referral for proper care.

Article 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.

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Source
http://dx.doi.org/10.1212/WNL.0000000000008065DOI Listing

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