P 451. Clinical Presentation of Children and Adolescents with Neurofibromatosis Type I

Background: Neurofibromatosis type I (NF1) is the most common tumor predisposing genetic disease with an incidence of 1:3,000. The disease is associated with a multitude of clinical characteristics affecting various organs and a highly variable inter- and intrafamilial disease severities. Currently, no measures to predict the outcome of a patient exist.

Purpose: Full characterization of the phenotype and comparison with literature to improve counseling.

Question: The goal was to correlate clinical presentation, imaging, laboratory, and genetic findings and data on the development of affected children and adolescents and thereby identify outcome predictors.

Methods and Results: Phenotype and genotype were retrospectively analyzed in a cohort of 300 children and adolescents with NF1, which were treated in the Sozialpädiatrisches Zentrum, Charité – Universitätsmedizin Berlin between January 2016 and December 2017. The following parameters were collected from patient files: (1) clinical presentation depending on the age of the manifestation, for example, tumor involvement, skin, cardiac, skeletal, and neurological findings, (2) imaging phenotype based on ultrasound, MRI and PET findings, (3) laboratory data including vitamin D metabolism and thyroid parameters, (4) genetic findings, and (5) data on child development including cognitive function and socioeconomic factors. We present correlation among clinical presentation, neurologic development and imaging, laboratory, and genetic findings in a large cohort of children and adolescents with NF1.