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European Journal of Pediatrics

, Volume 156, Issue 7, pp 572–574 | Cite as

Congenital bilateral agenesis of diaphragm: report of a case

  • S.-M. Wang
  • C.-H. Lin
  • Y.-J. Lin
  • H.-B. Yang
  • M.-H. Wu
PEDIATRIC SURGERY

Abstract

Bilateral agenesis of the diaphragm is a rare, life-threatening malformation. Infants with this defect rarely survive to have surgical intervention. We report a 32-week premature female infant who was born to a 36-year-old mother via vaginal delivery. The pregnancy course was complicated by hypertension and polyhydramnios. Cytogenetic study showed a normal 46 XX female karyotype. She had cyanosis, respiratory distress and scaphoid abdomen at birth. A roentgenograph confirmed the diagnosis of diaphragmatic hernia. Surgery was performed at 21 h of age. Bilateral agenesis of diaphragm, herniation of abdominal organs and oesophagus and pulmonary hypoplasia were noted. Furthermore, stomach and spleen were adherent to the mediastinum and vertebrae. The patient developed 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 fibrosis is a rare entity, and its clinical significance needs further investigation.

Key words Congenital diaphragmatic hernia Pulmonary hypoplasia Pancreas fibrosis 

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • S.-M. Wang
    • 1
  • C.-H. Lin
    • 1
  • Y.-J. Lin
    • 2
  • H.-B. Yang
    • 2
  • M.-H. Wu
    • 3
  1. 1.Department of Paediatrics, National Cheng Kung University Hospital, 138 Sheng-Li Road, Tainan, Taiwan Tel: 886-6-2766186; Fax: 886-6-2753083TW
  2. 2.Department of Pathology, National Cheng Kung University Hospital, Tainan, TaiwanTW
  3. 3.Department of Surgery, National Cheng Kung University Hospital, Tainan, TaiwanTW

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