[Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1].
| Autor: | Villamil-Osorio M; HOMI Fundación Hospital Pediátrico la Misericordia, Bogotá, Colombia., Yunis LK; Servicios Médicos Yunis Turbay y CIA, Bogotá, Colombia., Quintero L; HOMI Fundación Hospital Pediátrico la Misericordia, Bogotá, Colombia., Restrepo-Gualteros S; HOMI Fundación Hospital Pediátrico la Misericordia, Bogotá, Colombia., Yunis JJ; Servicios Médicos Yunis Turbay y CIA, Bogotá, Colombia., Jaramillo L; HOMI Fundación Hospital Pediátrico la Misericordia, Bogotá, Colombia., Agudelo BI; Clínica Comfamiliar Risaralda, Pereira, Colombia., Ladino Y; Servicios Médicos Yunis Turbay y CIA, Bogotá, Colombia. |
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| Jazyk: | Spanish; Castilian |
| Zdroj: | Andes pediatrica : revista Chilena de pediatria [Andes Pediatr] 2021 Dec; Vol. 92 (6), pp. 930-936. Date of Electronic Publication: 2021 Nov 05. |
| DOI: | 10.32641/andespediatr.v92i6.3287 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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