A disorder of surfactant metabolism without identified genetic mutations.

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 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 Over the follow-up period, hydroxychloroquine and azithromycin were not withdrawn as cough and dyspnea re-appeared at each attempt and disappeared a

SUBMITTER: Montella S 

PROVIDER: S-EPMC4658764 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature