| Autor: |
M Eyselbergs, F Vanhoenacker, J Hintjens, M Dom, K Devriendt, H Van Dijck |
| Jazyk: |
angličtina |
| Rok vydání: |
2014 |
| Předmět: |
|
| Zdroj: |
Journal of the Belgian Society of Radiology, Vol 97, Iss 2, Pp 90-93 (2014) |
| Druh dokumentu: |
article |
| ISSN: |
2514-8281 |
| DOI: |
10.5334/jbr-btr.20 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
