Unilateral giant cell lesion of the jaw in Noonan syndrome

摘要: Noonan syndrome (NS) is an etiologically heterogeneous disorder caused by mutations in the RAS-MAPK signaling pathway. Noonan-Like/Multiple Giant Cell Lesion (NL/MGCL) initially described as occurrence of multiple gnathic giant cell lesions patients with phenotypic features NS. Nowadays, NS/MGCL considered a variant NS spectrum rather than distinct entity. We report case 14-year-old female patient carrying SOS1 mutation unilateral lesion right mandible. Cross-sectional imaging such CT and MRI are not specific for diagnosis oral lesions. Nonetheless, intralesional scattered foci low SI on T2-WI, corresponding to hemosiderin deposits due hemorrhage, can help radiologist narrowing down differential