| Popis: |
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.To pre sent a newborn with chILD syndrome and a large deletion in chromosome 14q12-q21.1.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.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. |
