A case report of inherited surfactant protein deficiency: unknown cause of diffuse infiltrative diseases in Tunisia

Abstract

Introduction : Children`s Interstitial Lung Diseases (cHILD) are a heterogeneous group of rare respiratory diseases. Their common characteristics are gas
exchange abnormalities and diffuse pulmonary infiltrates on chest imaging. This group includes inherited surfactant protein deficiency (ISPD), a little-known
etiology in Tunisia.

Case Presentation : A 22-month-old boy was referred to investigate recurrent respiratory infections. He had polypnea, cyanosis, finger clubbing, pectus
carinatum, intercostal retraction, and bilateral crackles on pulmonary auscultation. The chest imaging revealed a diffuse ground-glass appearance consistent
with cHILD. Lung biopsy was suggestive of ISPD. The infant was mainly treated with intravenous corticosteroids. At the age of nine, he was still dependent on
oxygen but had better exercise tolerance.

Conclusion : This case showed that recurrent respiratory infections can hide cHILD which may be related to ISPD, particularly in infants. A better knowledge
of this disease was necessary to start specific treatment. Early management would lead to better prognosis.