Orbital rhabdomyosarcoma in Noonan syndrome.
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.
Jung
Andreas
A
Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
Bechthold
Susanne
S
Pfluger
Thomas
T
Renner
Christian
C
Ehrt
Oliver
O
D001918:Brachytherapy; D002648:Child; D003131:Combined Modality Therapy; D003609:Dactinomycin / Q000008:administration & dosage; D005094:Exophthalmos / Q000209:etiology; D006801:Humans; D007069:Ifosfamide / Q000008:administration & dosage; D008279:Magnetic Resonance Imaging; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D009634:Noonan Syndrome / Q000235:genetics*; D009918:Orbital Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000532:radiotherapy; D011867:Radioisotope Teletherapy; D018233:Rhabdomyosarcoma, Embryonal / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000532:radiotherapy; D014750:Vincristine / Q000008:administration & dosage
D003609:Dactinomycin; D014750:Vincristine; D007069:Ifosfamide