CONGENITAL BILATERAL AGENESIS OF DIAPHRAGM - REPORT OF A CASE

Bilateral agenesis of the diaphragm is a rare, life-threatening malfor mation. Infants with this defect rarely survive to have surgical inter vention. We report a 32-week premature female infant who was born to a 36-year-old mother via vaginal delivery. The pregnancy course was com plicated by hypertension and polyhydramnios. Cytogenetic study showed a normal 46 XX female karyotype. She had cyanosis, respiratory distres s and scaphoid abdomen at birth. A roentgenograph confirmed the diagno sis of diaphragmatic hernia. Surgery was performed at 21 h of age. Bil ateral agenesis of diaphragm, herniation of abdominal organs and oesop hagus and pulmonary hypoplasia were noted. Furthermore, stomach and sp leen were adherent to the mediastinum and vertebrae. The patient devel oped hypotension and persistent hypoxaemia and expired at age of 26 h. Autopsy revealed bilateral agenesis of diaphragm, hypoplasia of lungs , and pancreas fibrosis with mild hypoplasia of islets of Langerhans. Conclusion Bilateral agenesis of diaphragm associated with pancreas fi brosis is a rare entity, and its clinical significance needs further i nvestigation.