The male patient was referred to the hospital at 44 days old due to dyspnea after birth and inability to wean off oxygen. His brother died three days after birth due to respiratory failure. The main symptoms observed were respiratory failure, dyspnea, and hypoxemia. A chest CT scan revealed characteristic reduced opacity in both lungs with a "crazy-paving" appearance. The bronchoalveolar lavage fluid (BALF) showed periodic acid-Schiff positive proteinaceous deposits. Genetic testing indicated a compound heterozygous mutation in the ABCA3 gene. The diagnosis for the infant was congenital pulmonary alveolar proteinosis (PAP). Congenital PAP is a significant cause of challenging-to-treat respiratory failure in full-term infants. Therefore, congenital PAP should be considered in infants experiencing persistently difficult-to-treat dyspnea shortly after birth. Early utilization of chest CT scans, BALF pathological examination, and genetic testing may aid in early diagnosis.
患儿，男，44日龄，因生后呼吸困难、不能离氧1月余入院。既往有一哥哥，生后3 d因呼吸衰竭夭折。患儿主要表现为生后不久出现呼吸衰竭、呼吸困难、低氧血症。胸部CT表现为双肺透亮度明显减低，呈“铺路石征”；支气管肺泡灌洗液病理检查免疫组化呈现过碘酸希夫染色阳性；基因检测结果提示ABCA3基因复合杂合突变。该患儿诊断为先天性肺泡蛋白沉积症。先天性肺泡蛋白沉积症是导致足月儿难以治疗的呼吸衰竭的重要原因，因此对生后较早起病的难治性呼吸困难需考虑该疾病可能，尽早行胸部CT检查、支气管肺泡灌洗液病理学检查及基因检测，有助于早期诊断及指导临床决策。.
Keywords: ABCA3 gene; Neonate; Pulmonary alveolar proteinosis; Respiratory failure.