Am. J. Respir. Crit. Care Med., Volume 161, Number 2, February 2000, 608-614

Deficiency of Lamellar Bodies in Alveolar Type II Cells Associated with Fatal Respiratory Disease in a Full-term Infant

ERNEST CUTZ, SUSAN E. WERT, LAWRENCE M. NOGEE, and AIDEEN M. MOORE

Division of Pathology, Department of Pediatric Laboratory Medicine, Division of Neonatology, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada; Divisions of Neonatology and Pulmonary Biology, Children's Hospital Medical Center, Cincinnati, Ohio; and Division of Neonatology, The Johns Hopkins Hospital, Baltimore, Maryland

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 cellsthe principal storage site of pulmonary surfactant. Cutz E, Wert SE, Nogee LM, Moore AM. Deficiency of lamellar bodies in alveolar type II cells associated with fatal respiratory disease in a full-term infant.

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