Pediatric Radiology

, Volume 47, Issue 3, pp 361–365 | Cite as

Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome

  • Arthur B. MeyersEmail author
  • Agboola O. Awomolo
  • Sara Szabo
Case Report


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.


Child Computed tomography Giant cell granuloma Magnetic resonance imaging Noonan syndrome Pigmented villonodular synovitis Tenosynovial giant cell tumor 


Compliance with ethical standards

Conflicts of interest



  1. 1.
    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 461–539Google Scholar
  2. 2.
    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] 40:537–541CrossRefGoogle Scholar
  3. 3.
    Roberts AE, Allanson JE, Tartaglia M et al (2013) Noonan syndrome. Lancet 381:333–342CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Romano AA, Allanson JE, Dahlgren J et al (2010) Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 126:746–759CrossRefPubMedGoogle Scholar
  5. 5.
    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:2283–2289CrossRefGoogle Scholar
  6. 6.
    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 14:207–210PubMedGoogle Scholar
  7. 7.
    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 17:1216–1221CrossRefPubMedPubMedCentralGoogle Scholar
  8. 8.
    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 27:90–94PubMedPubMedCentralGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Arthur B. Meyers
    • 1
    • 2
    Email author
  • Agboola O. Awomolo
    • 1
  • Sara Szabo
    • 3
    • 4
  1. 1.Department of RadiologyChildren’s Hospital of WisconsinMilwaukeeUSA
  2. 2.Department of RadiologyNemours Children’s Health System/Nemours Children’s HospitalOrlandoUSA
  3. 3.Department of PathologyMedical College of Wisconsin & Children’s Hospital of WisconsinMilwaukeeUSA
  4. 4.Division of Pathology and Laboratory MedicineCincinnati Children’s Hospital Medical CenterCincinnatiUSA

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