Abstract
Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis. It is important for radiologists to be aware of the association of Noonan syndrome and multifocal giant cell lesions, which can range from the more commonly described giant cell granulomas of the mandible to isolated or multifocal intra- or extra-articular tenosynovial giant cell tumors or a combination of all of these lesions.
Similar content being viewed by others
References
Kransdorf MJ, Murphey MD (2014) Synovial tumors. In: Kransdorf MJ, Murphy MD (eds) Imaging of soft tissue tumors, 3rd edn. Lippincott, Williams and Wilkins, Philadelphia, pp 461–539
Wang JP, Rancy SK, DiCarlo EF et al (2015) Recurrent pigmented villonodular synovitis and multifocal giant cell tumor of the tendon sheath: case report. J Hand Surg [Am] 40:537–541
Roberts AE, Allanson JE, Tartaglia M et al (2013) Noonan syndrome. Lancet 381:333–342
Romano AA, Allanson JE, Dahlgren J et al (2010) Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 126:746–759
Karbach J, Coerdt W, Wagner W et al (2012) Noonan syndrome with multiple giant cell lesion and review of the literature. Am J Genet A 158A:2283–2289
Minisola G, Porzio V, Ceralli F et al (1996) Polyarticular pigmented villonodular synovitis associated with multiple congenital anomalies. A case of Noonan-like/multiple giant cell lesion syndrome. Clin Exp Rheumatol 14:207–210
Beneteau C, Cavé H, Moncla A et al (2009) SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. Eur J Hum Genet 17:1216–1221
Neubauer P, Weber KA, Miller HN et al (2007) Pigmented villonodular synovitis in children: a report of six cases and review of the literature. Iowa Orthop J 27:90–94
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflicts of interest
None
Rights and permissions
About this article
Cite this article
Meyers, A.B., Awomolo, A.O. & Szabo, S. Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome. Pediatr Radiol 47, 361–365 (2017). https://doi.org/10.1007/s00247-016-3743-3
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00247-016-3743-3