Unilateral giant cell lesion of the jaw in Noonan syndrome
| Autor: | H Van Dijck, Filip Vanhoenacker, M Eyselbergs, J Hintjens, M Dom, Koenraad Devriendt |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: |
lcsh:Medical physics. Medical radiology. Nuclear medicine
Pathology medicine.medical_specialty Adolescent lcsh:R895-920 Jaws Mandible Lesion Diagnosis Differential Granuloma Giant Cell Temporal bone medicine Humans business.industry Noonan Syndrome medicine.disease Magnetic Resonance Imaging Giant cell Granuloma Hemosiderin SOS1 Noonan syndrome Female Human medicine medicine.symptom Differential diagnosis business Tomography X-Ray Computed |
| Zdroj: | JBR-BTR Journal of the Belgian Society of Radiology; Vol 97, No 2 (2014); 90-93 Journal of the Belgian Society of Radiology, Vol 97, Iss 2, Pp 90-93 (2014) |
| ISSN: | 1780-2393 |
| 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. ispartof: JBR-BTR : organe de la Société royale belge de radiologie (SRBR) = orgaan van de Koninklijke Belgische Vereniging voor Radiologie (KBVR) vol:97 issue:2 pages:90-93 ispartof: location:Belgium status: published |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|