A Case of Pharyngeal Polyposis due to a Microdeletion of Chromosome 10

The BMPR1A gene and PTEN genes are located in close proximity to each other on the long arm of chromosome 10, and are the causative genes of juvenile polyposis syndrome and Cowden disease, respectively. We report a case of pharyngeal polyposis with a deletion detected in chromosome 10 that presented with an airway emergency and was initially suspected as a case of juvenile polyposis or Cowden disease. The patient was a 5-year-old boy with malformative syndrome who visited our pediatrics department. Since he was 1 year old, he had undergone lower endoscopic polypectomy every six months for juvenile polyposis. Four months ago, he began to snore while sleeping, and one month ago, he had begun to have cough and labored breathing. Clinical examination revealed pneumonia affecting the right lung and he was admitted to the pediatrics department for observation and treatment. At the time of admission, we received a reference to see the patient, and found bilateral enlargement of the tonsils and a polyp-like mass in the pharynx on visual inspection. A sleep test was considered during hospitalization, but on the day of hospitalization, the patient exhibited frequent episodes of apnea, and the SpO2 decreased to 80%. Therefore, securing the airway was judged as being highly urgent, and on the day after admission, pharyngeal polyp resection and bilateral palatal tonsillectomy were performed under general anesthesia. After the operation, the patient was managed in the ICU, and he was extubated the following day. He was discharged 7 days after surgery because the oxygenation was adequate, there were no complications, and the pneumonia had improved. Histopathology of the resected specimens revealed no malignant findings, and we made the diagnosis of follicular hyperplasia. A microdeletion in chromosome 10 was considered as the cause of the pharyngeal polyposis in this case. Until now, 6 months have passed since the operation, and there has been no evidence of recurrence. We propose to continue to follow up the patient carefully in the future.