Oropharyngeal teratoma in association with a diaphragmatic hernia

Abstract Pediatric germ cell tumors (GCT) rarely occur in the head and neck region and they are rarely associated with congenital anomalies. A 17 month old girl presented with a history of cough and change in voice for one month. Her chest x-ray and cross sectional imaging was suggestive of a mediastinal mass, right diaphragmatic hernia, and rib abnormality. Serologic and biomarkers were all negative for tumors. Surgical resection occurred with clear margins revealing a mass arising from the left hypopharnx via a pedunculated stalk. Histopathology was consistent with a mature teratoma including significant amounts of parathyroid tissue. She remains tumor free at 18 months follow up. To the best of our knowledge our patient is the third case in which a diaphragmatic hernia was reported in association with hypopharyngeal teratoma and our patient is the first to survive; this provides an opportunity to counsel families when this association is encountered.