Journal Basic Info

  • Impact Factor: 1.995**
  • H-Index: 8
  • ISSN: 2474-1647
  • DOI: 10.25107/2474-1647
**Impact Factor calculated based on Google Scholar Citations. Please contact us for any more details.

Major Scope

  •  Thoracic Surgery
  •  Robotic Surgery
  •  Endocrine Surgery
  •  Bariatric Surgery
  •  Cardiovascular Surgery
  •  Colon and Rectal Surgery
  •  Neurological Surgery
  •  Gynecological Surgery


Citation: Clin Surg. 2017;2(1):1650.Case Report | Open Access

Congenital Diaphragmatic Disease: An Unusual Presentation in Adulthood

Angela Gurrado, Roberta Maria Isernia, Alessandro De Luca, Valentina Ferraro, Daniela Virgintino, Anna Napoli, Giuseppe Cavallaro, Eugenio Maiorano, Angela Pezzolla and Mario Testini

Department of Biomedical Sciences and Human Oncology, Unit of Endocrine, Digestive and Emergency Surgery, University Medical School ‘‘A. Moro’’, Bari, Italy
Department of Basic Medical Sciences, Neurosciences, and Sensory Organs, Human Anatomy and Histology Unit, University Medical School ‘‘A. Moro’’, Bari, Italy
Department of Pathology, University Medical School ‘‘A. Moro’’, Bari, Italy
Department 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 

 PDF  Full Text DOI: 10.25107/2474-1647.1650


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.


Cite the article

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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