Pleuropulmonary blastoma, type 1R

A year old female admitted for pneumonia was found to have CXR concerning for right sided congenital emphysematous lung lesion She was initially treated with antimicrobials and pediatric pulmonology was consulted regarding abnormal CXR Physical examination revealed right chest diminished air exchange with increased anteroposterior diameter Flexible fiber optic bronchoscopy demonstrated mucoid impaction of the right main stem bronchus causing ball valve mechanism leading to air trapping with herniation of the right lung to left There was also diffuse inflammation of her tracheobronchial tree distal tracheobronchomalacia and bronchomalacia of RML and RUL bronchi Airway clearance was added CTA revealed severe hyper expansion of the RML with multiple cysts that occupied the majority of her right hemithorax and left mediastinal shift Lung V Q scan showed minimal contribution by the right lung of only with minimal perfusion Pediatric general surgery recommended outpatient surgical resection Two months later she underwent right thoracoscopy thoracotomy with RML resection and chest tube placement Operative findings significant for multiple adhesions from the RML to pleura grossly distended RML which was emphysematous throughout The patient had resolution of the right pneumothorax within a week postoperatively Histopathologic diagnosis of the RML lobectomy and supplying bronchus resulted pleuropulmonary blastoma regressed type r Given the rarity of this lesion the case and pathologic specimens were sent for review at the international pleuropulmonary blastoma registry in Minnesota USA with diagnostic consensus Postoperatively pleuropulmonary blastoma tissue diagnosis raised concern for DICER syndrome Medical genetics recommended DICER testing which revealed no identified mutations Her care transferred to pediatric oncology Abdominal and thyroid ultrasonography was negative for tumors cysts or other abnormalities The patient was safely discharged home following her postoperative recovery At follow up CTA revealed no tumors and CXR normalized Outpatient PFT demonstrated mild obstructive pulmonary defect with reversibility to bronchodilators but did not reveal restriction