Clin Surg | Volume 2, Issue 1 | Case Report | Open Access

Congenital Diaphragmatic Disease: An Unusual Presentation in Adulthood

Angela Gurrado1*, Roberta Maria Isernia1, Alessandro De Luca1, Valentina Ferraro1, Daniela Virgintino2, Anna Napoli3, Giuseppe Cavallaro4, Eugenio Maiorano3, Angela Pezzolla5 and Mario Testini1

1Department of Biomedical Sciences and Human Oncology, Unit of Endocrine, Digestive and Emergency Surgery, University Medical School ‘‘A. Moro’’, Bari, Italy
2Department of Basic Medical Sciences, Neurosciences, and Sensory Organs, Human Anatomy and Histology Unit, University Medical School ‘‘A. Moro’’, Bari, Italy
3Department of Pathology, University Medical School ‘‘A. Moro’’, Bari, Italy
4Department of Surgery "P. Valdoni", Sapienza University, Rome, Italy 5 Department of Emergency and Organs Transplantation, University Medical School ‘‘A. Moro’’, Bari, Italy

*Correspondance to: Angela Gurrado 

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Congenital Diaphragmatic Disease (CDD) is a relatively common condition that usually occurs in the neonatal period, and the diagnosis of CDD in adulthood is rare. A 64-years-old Caucasian woman was admitted in emergency at our Academic Department, due to a bowel obstruction and dyspnea. The anamnesis revealed intellectual disability and strabismus. A CT scan showed a diaphragmatic herniation in the left area, with chest dislocation of dilated transverse and descending colon, with complete atelectasis of the medial-basal part of the lung. A toxic megacolon was also supposed. Moreover, the left hepatic lobe was not radiologically detectable. An emergency laparatomy was performed, confirming the preoperative diagnosis of toxic megacolon, in the absence of a true diaphragmatic hernia, and a left diaphragm and left liver hypoplasia were reported. An intraoperative bronchoscopy revealed concomitant hypoplasia of the left lung. A subtotal colectomy with ileo-rectal anastomosis was performed. The postoperative course was uneventful. Histological examination demonstrated hyperplasia of the muscularis mucosae of the colon and cytoplasmic vacuolization of the Auerbach plexus ganglia. The karyotype genetic analysis excluded concomitant microdeletion or duplication syndromes. In conclusion, the correct development of the diaphragm is essential for the neighboring organs; the observed clinical pattern could be related to a partial modification of neural crest cell detachment or migration, which could have been responsible for bowel and diaphragm defects. Even though it was not included in typical neural crest cell syndromes. Further researches should be performed in order to define the sporadic or syndromic source of these multiorgan defects.


Gurrado A, Isernia RM, De Luca A, Ferraro V, Virgintino D, Napoli A, et al. Congenital Diaphragmatic Disease: An Unusual Presentation in Adulthood. Clin Surg. 2017; 2: 1650.

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