Overview
Retrospective and prospective collection of brain and spinal MRI and MR angiography images from patients of all ages with a genetically confirmed diagnosis of Noonan syndrome.
Description
Mutations affecting the RAS signaling pathway are known to be associated with an increased risk of tumor development. In patients with Noonan syndrome (NS), brain tumors appear to occur more frequently than in the general population. The brain tumors most commonly reported in these patients include dysembryoplastic neuroepithelial tumors (DNETs) and low-grade gliomas, while high-grade gliomas have been reported less frequently.
Based on the available literature, which consists mainly of small case series and case reports, as well as our own experience with cerebrovascular abnormalities and DNETs in patients with NS, the RAS/RAS-MAPK signaling pathway may play a role in brain development.
These observations highlight the need for a systematic neuroradiological study in patients with a genetically confirmed diagnosis of NS.
Brain MRI is already part of routine clinical practice in patients with NS, particularly before the initiation of growth hormone (GH) therapy, which, in accordance with the relevant Italian Medicines Agency (AIFA) prescribing criteria, may be indicated in patients with pathological short stature and in those with GH deficiency.
A detailed analysis of brain MRI and MR angiography (MRA) images in patients with a genetically confirmed diagnosis of NS will help expand current knowledge of the neurological manifestations of the condition and identify specific genotype-phenotype correlations.
Eligibility
Inclusion Criteria:
- Genetic confirmation of diagnosis
- Informed consent form signed
