Orbital rhabdomyosarcoma in Noonan syndrome

• Published in: Journal of pediatric hematology/oncology Vol. 25; no. 4; pp. 330 - 332
• Main Authors: JUNG, Andreas, BECHTHOLD, Susanne, PFLUGER, Thomas, RENNER, Christian, EHRT, Oliver
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott 01-04-2003
• Subjects: Biological and medical sciences; Brachytherapy; Child; Combined Modality Therapy; Dactinomycin - administration & dosage; Exophthalmos - etiology; Humans; Ifosfamide - administration & dosage; Magnetic Resonance Imaging; Male; Medical sciences; Neoplastic Syndromes, Hereditary - genetics; Noonan Syndrome - genetics; Ophthalmology; Orbital Neoplasms - diagnosis; Orbital Neoplasms - drug therapy; Orbital Neoplasms - genetics; Orbital Neoplasms - radiotherapy; Radioisotope Teletherapy; Rhabdomyosarcoma, Embryonal - diagnosis; Rhabdomyosarcoma, Embryonal - drug therapy; Rhabdomyosarcoma, Embryonal - genetics; Rhabdomyosarcoma, Embryonal - radiotherapy; Tumors and pseudotumors of the eye, orbit, eyelid, lacrimal apparatus; Vincristine - administration & dosage; Human; Nervous system diseases; Orbit; Sarcoma; Diseases of the osteoarticular system; Rhabdomyosarcoma; Clinical form; Cardiovascular disease; Male; Noonan syndrome-Orbital tumor-Rhabdomyosar- coma-Proptosis; Malignant tumor; Genetic disease; Case study; Striated muscle disease; Concomitant disease; Noonan syndrome; Osteochondrodysplasia; Child
• ISSN: 1077-4114; 1536-3678
• DOI: 10.1097/00043426-200304000-00014

The incidence of various benign and malignant tumors is increased in patients with Noonan syndrome compared with the general population. We present a 9-year-old boy with the typical features of Noonan syndrome and an acute nonaxial proptosis of the right eye. An ultrasound scan, a computed tomography scan, and magnetic resonance imaging raised suspicion of rhabdomyosarcoma. Biopsy confirmed the diagnosis. The tumor was consequently treated with combined chemotherapy and radiotherapy. Rhabdomyosarcoma is a rare but important differential diagnosis of tumor formation in children with Noonan syndrome and may arise in the orbit.