The management of Neurofibromatosis type 1 (NF1) in children and adolescents

Expert Rev Neurother. 2024 Feb 26. doi: 10.1080/14737175.2024.2324117. Online ahead of print.ABSTRACTINTRODUCTION: Neurofibromatosis type 1 (NF1) is a rare neurogenetic disorder characterized by multiple organ system involvement and a predisposition to the development of benign and malignant tumors. With revision of the clinical criteria for NF1 and the availability of germline genetic testing, there is now an opportunity to render an early diagnosis, expedite medical surveillance, and initiate treatment in a prompt and targeted manner.AREAS COVERED: Given the complexity and clinical variability inherent to NF1, the authors review the spectrum of medical problems associated with this genetic condition, focusing specifically on children and young adults. The age-dependent appearance of NF1-associated features is highlighted, and the currently accepted medical, as well as new investigational, treatments are discussed. Additionally, future directions for optimizing the care of this unique population of children are outlined.EXPERT OPINION: The appearance of NF1-related medical problems is age dependent, requiring surveillance for those features most likely to occur at any given age during childhood. As such, we advocate a life stage-focused screening approach beginning in infancy and continuing through the transition to adult care. With early detection, it becomes possible to institute therapies in a timely manner to reduce the morbidity associated with these medical complicatio...
Source: Expert Review of Neurotherapeutics - Category: Neurology Authors: Source Type: research