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Updated: Mar 29, 2026

Surfactant Depletion Combined with Injurious Ventilation Results in a Reproducible Model of the Acute Respiratory Distress Syndrome ARDS
Published on: April 7, 2021
A disorder of surfactant metabolism without identified genetic mutations
Silvia Montella1, Timothy J Vece2, Claire Langston3
1Department of Translational Medical Sciences, Federico II University, Via Sergio Pansini, 5 - 80131, Naples, Italy. amina2004@virgilio.it.
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 methylprednisolone plus 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 Over the follow-up period, hydroxychloroquine and azithromycin were not withdrawn as cough and dyspnea re-appeared at each attempt and disappeared at re-start.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.
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