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Original Article

Unilateral giant cell lesion of the jaw in Noonan syndrome

Authors:

M Eyselbergs ,

Department of Radiology, AZ Sint Maarten Duffel-Mechelen, Duffel, Belgium, Department of Radiology, Antwerp University Hospital, Edegem, Belgium, BE
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F Vanhoenacker,

Department of Radiology, AZ Sint Maarten Duffel-Mechelen, Duffel, Belgium, Department of Radiology, Antwerp University Hospital, Edegem, Belgium, Faculty of Medicine and Health sciences, Ghent University, Ghent, Belgium, BE
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J Hintjens,

Department of Oral and Maxillofacial Surgery, AZ Sint Maarten, Duffel-Mechelen, Duffel, Belgium, BE
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M Dom,

Department of Oral and Maxillofacial Surgery, AZ Sint Maarten, Duffel-Mechelen, Duffel, Belgium, BE
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K Devriendt,

Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium, BE
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H Van Dijck

Department of Surgical Pathology, AZ Sint Maarten Duffel-Mechelen, Duffel, Belgium, BE
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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: Jaws  
How to Cite: Eyselbergs, M. et al., (2014). Unilateral giant cell lesion of the jaw in Noonan syndrome. Journal of the Belgian Society of Radiology. 97(2), pp.90–93. DOI: http://doi.org/10.5334/jbr-btr.20
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Published on 01 Mar 2014.
Peer Reviewed

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