par Alev, Nuriya ;Casimir, Georges ;Lefevre, Nicolas
Référence Revue médicale de Bruxelles, 41, 2, page (108-111)
Publication Publié, 2020-04-01
Article révisé par les pairs
Résumé : Diffuse interstitial lung disease (ILD) is a heterogeneous group of rare respiratory diseases characterized by impaired gas exchange, and diffuse lung infiltrates on imaging. We report the case of a two-years old girl with recurrent pneumonia associated with a failure-to-thrive. The finding of ground-glass opacities on high-resolution thoracic computed tomography led to perform a thorough assessment of interstitial lung disease, revealing a mutation in the gene encoding the surfactant protein C. It is an autosomal dominant mutation, most often sporadic. The phenotype is highly variable, from severe neonatal respiratory distress to pauci-symptomatic adults. Our patient still requires nocturnal oxygen therapy as well as hyper-caloric diet administered by a gastrostomy, despite successive treatments with oral and intravenous methylprednisolone, azithromycin, and finally hydroxychloroquine. A diagnosis of interstitial lung disease in children, even rare, should be considered in the presence of repeated pneumonia with signs of chronic respiratory insufficiency, mainly if an extrapulmonary manifestation such as a slow weight gain, is associated.