Jun-Yan Han, Rong Zhang, Jian-Guo Zhou, Li-Yuan Hu, Li-Ling Qian, Ai-Zhen Lu, Lin Yang, Yang-Yang Ma, Zhong-Wei Qiao, Lan Zhang
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...
October 15, 2023: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics