Two Series of Familial Cases With Unclassified Interstitial Pneumonia With Fibrosis

Lee, Eun; Seo, Ju-Hee; Kim, Hyoung-Young; Yu, Jinho; Song, Jin Woo; Park, Young Soo; Jang, Se-Jin; Do, Kyung-Hyun; Kwon, Jiwon; Park, Sung-woo; Park, Jeong-hwan; Hong, Soo-Jong

A previously healthy 35-month-old girl was referred to our medical center for severe dyspnea. Four weeks prior to admission, she had developed a mild cough, and her oral intake had become poor. Four days prior to admission, she had developed sudden onset dyspnea and subcutaneous emphysema. On admission, she presented with marked tachypnea (respiratory rate, 80/min) and chest retraction, and rales were audible in both lungs on auscultation. Radiography and a CT scan of the chest showed an extensive pneumomediastinum, a pneumothorax in the right hemithorax, and diffuse ground-glass opacities with consolidation in both lungs ( Fig. 2A and 2B ). Her total leukocyte count was 9,300/μL, with 66% neutrophils and 27% lymphocytes. Blood, sputum, and BAL cultures for bacteria and fungi were negative. Multiplex RT-PCR of nasopharyngeal aspirates revealed the presence of respiratory syncytial virus (RSV). She was admitted to the intensive care unit and treated with steroids, cyclophosphamide, hydroxychloroquine, and broad-spectrum antibiotics. Her response to treatment was poor, and her condition deteriorated rapidly. On the third day of admission, mechanical ventilation was required for impending respiratory failure. Repeated chest radiography revealed the presence of increased opacities in both lungs (Fig. 2C ). She then developed refractory hypoxemic and hypercarbic respiratory failure with subsequent multiorgan dysfunction. Despite the administration of antifibrotics and supportive therapy, she died 70 days after admission. A postmortem lung biopsy revealed the features of the fibrotic phase of DAD with occasional hyaline membrane and type II pneumocyte hyperplasia (Fig. 2D ).