• Chunxia Lei, Chunhui Wan, and Caixia Liu.
• Department of Neonatology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
• Medicine (Baltimore). 2024 Mar 29; 103 (13): e37622e37622.

IntroductionCongenital surfactant deficiency, often caused by mutations in genes involved in surfactant biosynthesis such as ABCA3, presents a significant challenge in neonatal care due to its severe respiratory manifestations. This study aims to analyze the clinical data of a newborn male diagnosed with pulmonary surfactant metabolism dysfunction type 3 resulting from ABCA3 gene mutations to provide insights into the management of this condition.Patient ConcernsA newly born male child aged 1 day and 3 hours was referred to our department due to poor crying and shortness of breath.DiagnosisPrimary diagnoses by the duty physicians were: neonatal pneumonia, neonatal respiratory failure, persistent neonatal pulmonary hypertension, birth asphyxia, myocardial damage, and arteriovenous catheterization. Genetic test revealed a compound heterozygous variant in the ABCA3 gene. One allele may be exon variant c.4561C>T, the second allele may be intron variant c.1896 + 2_1896 + 17del. The associated disease included pulmonary surfactant metabolism dysfunction type 3.InterventionsHe was initially treated with an antiinfective therapeutic regimen.OutcomesThe family was informed of this condition and signed off, and the child died.ConclusionHereditary pulmonary surfactant deficiency is a rare and untreatable disease. The case highlights the challenges in managing congenital surfactant deficiencies and emphasizes the need for heightened awareness of this rare cause of infant respiratory failure.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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