Enlarged spinal nerve roots in RASopathies: Report of two cases

Abstract

RASopathies are a group of genetic conditions caused by germline variants in genes encoding signal transducers and modulators of the RAS-MAPK cascade. These disorders are multisystem diseases with considerable clinical overlap, even though distinct hallmarks are recognizable for each specific syndrome. Here we report on the presence of enlarged spinal nerve roots resembling neurofibromas, a typical neuroradiological finding of neurofibromatosis type 1, in two patients with a molecularly confirmed diagnosis of Noonan syndrome and cardio-facio-cutaneous syndrome, respectively. This evidence add enlarged spinal nerve roots as features shared among RASopathies. Future studies aiming to a better understanding of the molecular mechanisms leading to neurogenic tumor development in these patients are necessary to define their biological nature, evolution, prognosis and possible treatments.

Keywords: Cardio-facio-cutaneous syndrome; Diagnostic accuracy; Noonan syndrome; RASopathies; Tailored treatments.