Search

Introduction: In newborns with respiratory failure and interstitial lung disease, it should be approached as chILD (Childhood Interstitial Lung Disease) syndrome to rule out alterations in surfactant metabolism and brain-lung-thyroid syndrome caused by pathogenic variants in the NKX2-1 gene., Objective: To pre sent a newborn with chILD syndrome and a large deletion in chromosome 14q12-q21.1., Clinical Case: Newborn patient with respiratory distress since birth, chILD syndrome, and hypothyroidism, in which brain-lung-thyroid syndrome was suspected. He also presented seizures, minor and ma jor abnormalities on physical examination. Microarray analysis revealed a 14.7 Mb deletion in the chromosome 14q12-q21.1, which includes the NKX2-1 gene., Conclusion: The brain-lung-thyroid syndrome should be considered in newborns with respiratory distress syndrome and diffuse lung disease (chILD syndrome), especially if they present hypotonia, choreoathetosis, or hypothyroidism. Diagnosis confirmation requires genetic analysis, even more, when there are other abnormalities not explained by the suspected syndrome.

Respiratory insufficiency in a term infant during the first weeks of life is unusual. Possible causes include interstitial or diffuse lung disease, which are a heterogeneous group of mostly idiopathic disorders, characterized by diffuse infiltrates, restrictive functional defect, and disordered gas exchange. A form of interstitial lung disease that can affect infants, children or young adults is that associated with congenital surfactant protein B or C deficiency, in which the inflammatory process leading to interstitial fibrosis is preceded by the accumulation of proteinaceous material in the alveolar space. We assessed the role of potential abnormalities in the surfactant proteins B and C in a Spanish family in which two infants showed progressive neonatal respiratory failure associated with radiological and pathological alterations compatible with interstitial lung disease. The father had a history of respiratory disease since childhood. The two affected children in this family had abnormal expression of surfactant C precursor protein, with markedly decreased levels of the mature protein. Moreover, a previously unreported mutation in the gene encoding surfactant protein C, which was found in this family, is described.