Daniela Angelova-Toshkina, Josua A Decker, Thomas Traunwieser, Johannes Holzapfel, Stefanie Bette, Simon Huber, Mareike Schimmel, Kurt Vollert, Brigitte Bison, Thomas Kröncke, Nuria C Bramswig, Dagmar Wieczorek, Astrid K Gnekow, Michael C Frühwald, Michaela Kuhlen
Neurofibromatosis type 1 (NF1) is a phenotypically heterogenous multisystem cancer predisposition syndrome manifesting in childhood and adolescents. Central nervous system (CNS) manifestations include structural, neurodevelopmental, and neoplastic disease. We aimed to (1) characterize the spectrum of CNS manifestations of NF1 in a paediatric population, (2) explore radiological features in the CNS by image analyses, and (3) correlate genotype with phenotypic expression for those with a genetic diagnosis. We performed a database search in the hospital information system covering the period between January 2017 and December 2020...
March 5, 2023: European Journal of Paediatric Neurology: EJPN