Deficiency of lamellar bodies in alveolar type II cells associated with fatal respiratory disease in a full-term infant

• Published in: American journal of respiratory and critical care medicine Vol. 161; no. 2; pp. 608 - 614
• Main Authors: CUTZ, E, WERT, S. E, NOGEE, L. M, MOORE, A. M
• Format: Journal Article
• Language: English
• Published: New York, NY American Lung Association 01.02.2000
• Subjects: Biological and medical sciences; Biopsy; Fatal Outcome; Female; Humans; Inclusion Bodies - pathology; Infant, Newborn; Lung Diseases, Interstitial - pathology; Medical sciences; Microscopy, Electron; Pneumology; Pulmonary Alveoli - pathology; Pulmonary Surfactants - metabolism; Respiratory Distress Syndrome, Newborn - pathology; Respiratory Insufficiency - pathology; Respiratory system : syndromes and miscellaneous diseases; Human; Case study; Lung disease; Alveolar type II cell; Respiratory disease; Etiology; Deficiency; Lamellar body; Respiratory distress; Congenital disease; Child
• ISSN: 1073-449X; 1535-4970
• DOI: 10.1164/ajrccm.161.2.9905062

We report a case of a full-term female infant who presented with severe respiratory distress shortly after birth and died at 23 d of age with unremitting respiratory failure. Infectious and other known causes of respiratory disease in this clinical setting were excluded. Examination of a lung biopsy showed abnormal lung parenchyma with features reminiscent of desquamative interstitial pneumonitis. Ultrastructural studies revealed that alveolar type II cells lacked cytoplasmic lamellar bodies, while other organelles appeared normal. Histochemical and immunohistochemical investigations indicated normal alveolar type II cell marker expression including surfactant proteins (SP-A, SP-B, pro-SP-B, and pro-SP-C). Mutations in the coding sequences of the SP-B gene were excluded as a cause of disease. This case appears to be a novel congenital defect affecting the pulmonary surfactant system. The cellular abnormality may involve the assembly of cytoplasmic lamellar bodies in alveolar type II cells-the principal storage site of pulmonary surfactant.