Original Article
Unilateral giant cell lesion of the jaw in Noonan syndrome
Authors:
- M EyselbergsEmail M Eyselbergs
- F Vanhoenacker
- J Hintjens
- M Dom
- K Devriendt
- H Van Dijck
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.
Keywords:
- Year: 2014
- Volume: 97 Issue: 2
- Page/Article: 90-93
- DOI: 10.5334/jbr-btr.20
- Published on 1 Mar 2014
- Peer Reviewed