A child with tachypnea

We report a case of an 18-month-old boy with severe respiratory failure. At 16 months of age he was hospitalised for acute respiratory distress. Chest X-ray showed a large bilateral parenchymal opacities, while the chest CT scan showed a bilateral picture of ground-glass opacification. Due the difficulty of oxygen weaning and considering the poor nutritional condition, the baby was transferred to our hospital. The chest CT scan images and the clinical course were suggestive interstitial lung disease1. The cytological analysis performed on bronchoalveolar lavage showed abundant periodic acid-Schiff staining material. Repeated sessions of whole lung lavage were performed, and exogenous surfactant and pulse steroid were administered, with no benefit. The anti-GM- CSF antibodies (auto-antibodies against granulocyte-macrophage colony stimulating factor) were negative (excluding the possible diagnosis of autoimmune pulmonary alveolar proteinosis, PAP), whereas the exome analysis showed a variant in homozygosity in exon 22 of the ABCA3 transporter gene2. This variant, although not described in literature so far, has been suggested as pathogenic and correlated with a picture of pulmonary alveolar proteinosis with an autosomal recessive transmission. Considering the progressive worsening of the respiratory failure and the poor nutritional conditions, the hypothesis of a possible lung transplant was evaluated. However, the patient died at the age of 21 months.1. Hartl D, et al. Interst...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Paediatric bronchology Source Type: research