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Congenital diaphragmatic disease: An unusual presentation in adulthood. Case report

INTRODUCTION: Congenital diaphragmatic disease is a quite common condition that usually occurs in the neonatal period, and the diagnosis of congenital diaphragmatic disease in adulthood is rare. CASE PRESENTATION: A 64-years-old Caucasian woman was admitted in emergency at our Department, due to a b...

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Autores principales: Gurrado, Angela, Isernia, Roberta Maria, De Luca, Alessandro, Ferraro, Valentina, Virgintino, Daniela, Napoli, Anna, Cavallaro, Giuseppe, Maiorano, Eugenio, Pezzolla, Angela, Testini, Mario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026686/
https://www.ncbi.nlm.nih.gov/pubmed/29783140
http://dx.doi.org/10.1016/j.ijscr.2018.04.032
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author Gurrado, Angela
Isernia, Roberta Maria
De Luca, Alessandro
Ferraro, Valentina
Virgintino, Daniela
Napoli, Anna
Cavallaro, Giuseppe
Maiorano, Eugenio
Pezzolla, Angela
Testini, Mario
author_facet Gurrado, Angela
Isernia, Roberta Maria
De Luca, Alessandro
Ferraro, Valentina
Virgintino, Daniela
Napoli, Anna
Cavallaro, Giuseppe
Maiorano, Eugenio
Pezzolla, Angela
Testini, Mario
author_sort Gurrado, Angela
collection PubMed
description INTRODUCTION: Congenital diaphragmatic disease is a quite common condition that usually occurs in the neonatal period, and the diagnosis of congenital diaphragmatic disease in adulthood is rare. CASE PRESENTATION: A 64-years-old Caucasian woman was admitted in emergency at our Department, due to a bowel obstruction and dyspnea. A CT-scan showed a diaphragmatic herniation in the left area, with malposition of dilated transverse and descending colon in the chest. An emergency laparatomy was performed, showing a toxic megacolon, in the absence of a true diaphragmatic hernia, and a left diaphragm and left liver hypoplasia. 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. DISCUSSION: To our knowledge, this seems to be the first reported case of toxic megacolon in a patient with congenital hypoplasia of the left bronchial-lung system, of the left liver, and of the left diaphragm. 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 be 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.
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spelling pubmed-60266862018-07-05 Congenital diaphragmatic disease: An unusual presentation in adulthood. Case report Gurrado, Angela Isernia, Roberta Maria De Luca, Alessandro Ferraro, Valentina Virgintino, Daniela Napoli, Anna Cavallaro, Giuseppe Maiorano, Eugenio Pezzolla, Angela Testini, Mario Int J Surg Case Rep Article INTRODUCTION: Congenital diaphragmatic disease is a quite common condition that usually occurs in the neonatal period, and the diagnosis of congenital diaphragmatic disease in adulthood is rare. CASE PRESENTATION: A 64-years-old Caucasian woman was admitted in emergency at our Department, due to a bowel obstruction and dyspnea. A CT-scan showed a diaphragmatic herniation in the left area, with malposition of dilated transverse and descending colon in the chest. An emergency laparatomy was performed, showing a toxic megacolon, in the absence of a true diaphragmatic hernia, and a left diaphragm and left liver hypoplasia. 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. DISCUSSION: To our knowledge, this seems to be the first reported case of toxic megacolon in a patient with congenital hypoplasia of the left bronchial-lung system, of the left liver, and of the left diaphragm. 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 be 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. Elsevier 2018-05-07 /pmc/articles/PMC6026686/ /pubmed/29783140 http://dx.doi.org/10.1016/j.ijscr.2018.04.032 Text en © 2018 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Gurrado, Angela
Isernia, Roberta Maria
De Luca, Alessandro
Ferraro, Valentina
Virgintino, Daniela
Napoli, Anna
Cavallaro, Giuseppe
Maiorano, Eugenio
Pezzolla, Angela
Testini, Mario
Congenital diaphragmatic disease: An unusual presentation in adulthood. Case report
title Congenital diaphragmatic disease: An unusual presentation in adulthood. Case report
title_full Congenital diaphragmatic disease: An unusual presentation in adulthood. Case report
title_fullStr Congenital diaphragmatic disease: An unusual presentation in adulthood. Case report
title_full_unstemmed Congenital diaphragmatic disease: An unusual presentation in adulthood. Case report
title_short Congenital diaphragmatic disease: An unusual presentation in adulthood. Case report
title_sort congenital diaphragmatic disease: an unusual presentation in adulthood. case report
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026686/
https://www.ncbi.nlm.nih.gov/pubmed/29783140
http://dx.doi.org/10.1016/j.ijscr.2018.04.032
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