A potential life-saving diagnosis--recognizing Turcot syndrome.
A previously healthy 9-year-old girl presented with ataxia, headaches, and nausea of 1 month's duration. Magnetic resonance imaging demonstrated a large posterior fossa mass. Posterior segment examination revealed pigmented ocular fundus lesions (POFLs), which included cometoid dark lesions with depigmented tails and smaller, dark midperipheral lesions. The patient underwent resection for a medulloblastoma. Because of these specific retinal lesions in combination with her medullobastoma, a diagnosis of Turcot syndrome was made and subsequently confirmed by genetic testing. Turcot syndrome is one of the familial adenomatous polyposis (FAP) syndromes. This diagnosis may be life-saving because 100% of FAP patients develop colon cancer that can be cured only early with timely colectomy.
Department of Ophthalmology, University of California-San Francisco, San Francisco, California. Electronic address: Iangorovoy@gmail.com.
Ian R
IR
Gorovoy
Department of Ophthalmology, University of California-San Francisco, San Francisco, California.
Alejandra
A
de Alba Campomanes
D001932:Brain Neoplasms / Q000175:diagnosis* / Q000503:physiopathology / Q000601:surgery; D002528:Cerebellar Neoplasms / Q000175:diagnosis / Q000503:physiopathology / Q000601:surgery; D002648:Child; D015179:Colorectal Neoplasms / Q000175:diagnosis* / Q000503:physiopathology / Q000601:surgery; D003399:Craniotomy; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008527:Medulloblastoma / Q000175:diagnosis / Q000503:physiopathology / Q000601:surgery; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000503:physiopathology / Q000601:surgery; D014792:Visual Acuity / Q000502:physiology