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Lethal respiratory failure due to a surfactant protein C gene mutation

A case of full-term male infant with recurent episodes of "obstructive bronchitis" and "bilateral pneumonias", refractory to conventional asthma therapy, is reported. When referred to the paediatric clinic at age of 15 months, his clinical presentation was of acute respiratory distress syndrome with severe hypoxemia, which was easily corrected by the inhalation of oxigen. A series of further investigations, including lung biopsy, suggested the diagnosis of childhood interstitial lung disease (ILD). Due to progressive respiratory failure, the body died after 3 months of mechanical ventilator support, at the age of 19 months. Susequently performed genetic studies revealed that he was heterozygous for the I73T mutation of the surfactant protein C precursor protein. Thus, suspicion of childhood ILD due to genetic mutations that influence surfactant metabolism should be raised in children who present with unexplained respiratory distress or chronic respiratoy symptoms. Less invasive testing, such as surfactant protein genetics, may be diagnostic in such cases.

Child; Interstitial lung disease; Respiratory distress; Surfactant defficiency; Surfactant protein C

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