The patient was a previously healthy 12-year-old girl who was well until several weeks before admission when she developed nasal congestion and difficulty breathing through her nose. The symptoms showed no response to antibiotic therapy, and the patient developed a loss of appetite and progressive difficulty breathing and swallowing.
A mass became visible in the right nostril, and the palate was noted to be displaced inferiorly. CT and magnetic resonance imaging (MRI) scans of the head and neck showed a large mass filling the nasal cavities, nasopharynx, and sphenoid sinuses. The tumour eroded bone of the maxillary antra, sphenoid bone, cribriform plate, right hard palate, and orbit and had an intracranial extension. Lymphadenopathy was not appreciated. A chest CT scan showed a 2-mm subpleural lung nodule. A CT scan and abdominal ultrasound revealed a 4 – 8-mm multiloculated lesion in the spleen consistent with a benign cystic structure. A bone scan showed increased uptake in the right sphenoid and maxilla and focal uptake in the distal right femur; plain films of the right femur were unremarkable. A whole-body positron emission tomography scan showed an F-18 2-deoxyglucose (FDG)-avid nasopharyngeal mass; nonspecific FDG accumulation (without correlating CT or MRI abnormality) was observed in the chest wall, gastroesophageal junction, upper neck, and occipital cortex. Laboratory evaluation for Epstein–Barr virus was negative by serology (negative antibodies to capsid antigen, nuclear antigen, and early antigen D) and blood polymerase chain reaction (PCR). A biopsy of the nasopharyngeal tumour was performed. FISH was performed using probes for chromosomes 15 and 19.
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