Young adults with neurofibromatosis type 2 (NF2) typically come to medical attention when they develop hearing and balance problems, leading to the discovery of bilateral vestibular schwannomas (BVS). However, school-age children frequently do not present with BVS.
In order to identify the earliest signs of NF2 in these young children, Cristina Gaudioso, MD, a pediatric neurology resident at Washington University, spearheaded a four institution study involving NF2 experts at Children’s Hospital of Philadelphia, Stanford University, Lurie Children’s Hospital, and St. Louis Children’s Hospital.
Dr. Gaudioso found that children younger ten years of age who later get diagnosed with NF2 more frequently exhibit other clinical problems, including eye abnormalities. This report represented the largest series of its kind, and highlighted the need to recognize other features of this condition in order to promptly identify children with NF2 for proper management and treatment.
Gaudioso C, Listernick R, Fisher MJ, Campen CJ, Paz A, Gutmann DH. Neurofibromatosis 2 in children presenting during the first decade of life. Neurology. 2019 Sep 3;93(10):e964-e967. doi: 10.1212/WNL.0000000000008065. Epub 2019 Jul 30.