Orbital Rhabdomyosarcoma in Noonan Syndrome : Journal of Pediatric Hematology/Oncology (original) (raw)

CLINICAL AND LABORATORY OBSERVATIONS

Jung, Andreas M.D.; Bechthold, Susanne M.D.; Pfluger, Thomas M.D.; Renner, Christian M.D.; Ehrt, Oliver M.D.

From the Children's Hospital (A.J., S.B., C.R.) and the Departments of Radiology (T.P.) and Ophthalmology (O.E.), Ludwig-Maximilians-University, Munich, Germany.

Submitted for publication May 1, 2002.

Accepted August 19, 2002.

Address correspondence and reprint requests to Dr. med. Oliver Ehrt, Department of Ophthalmology, Mathildenstrasse 8, D–81825 Munich, Germany. E-mail: [email protected].

Abstract

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.