title: Unilateral giant cell lesion of the jaw in Noonan syndrome.
abstract: 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) syndrome is initially described as the occurrence of multiple gnathic giant cell lesions in patients with phenotypic features of NS. Nowadays, NS/MGCL syndrome is considered a variant of the NS spectrum rather than a distinct entity. We report the case of a 14-year-old female patient carrying a SOS1 mutation with a unilateral giant cell lesion of the right mandible. Cross-sectional imaging such as CT and MRI are not specific for the diagnosis of oral giant cell lesions. Nonetheless, intralesional scattered foci of low SI on T2-WI, corresponding to hemosiderin deposits due to hemorrhage, can help the radiologist in narrowing down the differential diagnosis of gnathic lesions in patients with NS.
authors: M
authors: M
authors: Eyselbergs
authors: F
authors: F
authors: Vanhoenacker
authors: J
authors: J
authors: Hintjens
authors: M
authors: M
authors: Dom
authors: K
authors: K
authors: Devriendt
authors: H
authors: H
authors: Van Dijck
mesh_terms: D000293:Adolescent; D003937:Diagnosis, Differential; D005260:Female; D006101:Granuloma, Giant Cell / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008334:Mandible / Q000000981:diagnostic imaging* / Q000473:pathology*; D009634:Noonan Syndrome / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed / Q000379:methods