Chitayat Syndrome: A Rare Case of Respiratory Distress in a Preterm Infant.

Abstract

Childhood interstitial lung diseases (chILDs) are rare respiratory conditions with significant mortality rates in neonates. They can be misdiagnosed as the symptoms overlap with other, more common neonatal diseases. Since chILD can be a manifestation of the underlying syndrome, suggestive physical findings, genetic testing, and practitioners' notion can contribute to better recognition, as in our patient with confirmed Chitayat syndrome. A male preterm infant born at 34 weeks of gestation showed signs of progressive respiratory distress from birth with lung hyperinflation and ground glass opacities on chest X-ray, requiring progressive respiratory support: initially non-invasive, then invasive ventilation and surfactant administration within the first hour of life. Physical examination revealed craniofacial disproportion, low-set ears, brachydactyly of the index fingers with ulnar deviation, hallux valgus, hypotonia, and hyporeflexia. Congenital heart defects, cystic fibrosis, and primary ciliary dyskinesia were excluded. Open lung biopsy demonstrated focally dilated alveoli and thickened septa. Sanger sequencing revealed a recurrent missense variant c.266A>G p.(Tyr89Cys) in the ERF gene. A tracheotomy was performed and despite gradual improvement with occasional respiratory support, he died at the age of 1 year and 5 months of a Pseudomonas aeruginosa respiratory infection.