Case 211: pleuropulmonary blastoma in association with cystic nephroma-DICER1 syndrome.

A 5-month-old full-term female infant presented to an outside institution with fever and tachypnea. She was born after an uncomplicated pregnancy and delivery, with an uneventful neonatal course. The parents reported a history of persistent tachypnea, grunting, and episodic nonproductive cough with intermittent wheezing since birth. A chest radiograph obtained at the outside hospital prompted transfer to our institution. The patient's medical history was otherwise unremarkable. There was no history of infectious exposure, recurrent infection, aspiration, or choking. Her immunizations were up to date. Physical examination revealed a temperature of 38.1°C, a respiratory rate of 48 breaths per minute, a heart rate of 158 beats per minute, decreased breath sounds on the left side, and mild suprasternal and intercostal retractions. Pertinent laboratory values, including white blood cell count, were normal. On arrival at our institution, unenhanced chest computed tomography (CT) was performed. The patient underwent surgical resection of the left upper lobe. On the basis of pathology results, ultrasonography (US) of the kidneys was performed and revealed a normal right kidney and a cystic lesion in the left kidney. This cyst increased in size, with interval development of a new cyst at 5-month follow-up. Partial nephrectomy of the left kidney was performed.