A disorder of surfactant metabolism without identified genetic mutations. Issue 1 (December 2015)

• Record Type: Journal Article
• Authors: Montella, Silvia; Vece, Timothy; Langston, Claire; Carrera, Paola; Nogee, Lawrence; Hamvas, Aaron; Manna, Angelo; Cervasio, Mara; Santamaria, Francesca
• Is Part Of: Italian journal of pediatrics. Volume 41:Issue 1(2015)
• Page Start: 1
• Page End: 4
• Publication Date: 2015-12
• Subjects: Interstitial lung disease -- Surfactant Biology and Pathophysiology -- Genetic testing; Pediatrics -- Periodicals; 618.920005
• DOI: 10.1186/s13052-015-0198-3
• Languages: English
• ISSNs: 1824-7288

Abstract

Abstract Background Surfactant metabolism disorders may result in diffuse lung disease in children. Case presentation We report a 3-years-old boy with dry cough, progressive hypoxemia, dyspnea and bilateral ground glass opacities at chest high-resolution computed tomography (HRCT) who had no variants in genes encoding surfactant proteins or transcription factors. Lung histology strongly suggested an abnormality of surfactant protein. A 7-month course of pulse intravenous high-dose methylprednisoloneplus oral hydroxychloroquine and azithromycin led to gradual weaning from oxygen and oral steroids, and to improvement of cough and dyspnea. Over the follow-up period, hydroxychloroquine and azithromycin were not withdrawn as cough and dyspnea re-appeared at each attempt and disappeared at re-start. At 6 years of age chest HRCT still appeared unchanged, but clinical symptoms or signs were absent. Conclusions In children suspected of inborn errors of pulmonary surfactant metabolism who do not have a recognized genetic mutation, lung biopsy with consistent histology may help physicians to address the definitive diagnosis.