Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperecogenicity and polyhydramnios: a case report
Abstract Background Tracheal agenesis (TA) is a rare disorder usually diagnosed prenatally when a congenital high airway obstruction syndrome (CHAOS) is identified. We present a case of unexpected TA in a neonate without prenatal diagnosis of airway obstruction, with a difficult management at birth....
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| Format: | Article |
| Language: | English |
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BMC
2020-07-01
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| Series: | Italian Journal of Pediatrics |
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| Online Access: | http://link.springer.com/article/10.1186/s13052-020-00861-0 |
| _version_ | 1819088077113524224 |
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| author | Alessandro Perri Maria Letizia Patti Annamaria Sbordone Giovanni Vento Rita Luciano |
| author_facet | Alessandro Perri Maria Letizia Patti Annamaria Sbordone Giovanni Vento Rita Luciano |
| author_sort | Alessandro Perri |
| collection | DOAJ |
| description | Abstract Background Tracheal agenesis (TA) is a rare disorder usually diagnosed prenatally when a congenital high airway obstruction syndrome (CHAOS) is identified. We present a case of unexpected TA in a neonate without prenatal diagnosis of airway obstruction, with a difficult management at birth. Moreover, we discuss about differential diagnosis, classification and treatment issues. Case presentation A 2280 g female neonate was born at 35 week gestational age (GA) with prenatal diagnosis of aortic coarctation, polyhydramnios and diffuse hyperechogenicity of the right lung. At birth, the neonate had no audible cry, no air entry to the lungs, and hypotonia. Tracheal intubation was unsuccessful, and no visualization of the trachea was obtained when tracheostomy was attempted. Post-mortem examination showed tracheal agenesis associated with tracheoesophageal fistula and revealed no cardiologic malformations. Aortic coarctation had been suspected prenatally because of the first portion of the descendent thoracic aorta being compressed by a fibrous band connecting the proximal and distal tracheal branches. CHAOS had not developed due to the tracheoesophageal fistula (TOF). Conclusions TA is not always diagnosed in the fetus and it may present unexpectedly making the neonate’s management at birth critical. An effective rescue temporary oxygenation may be obtained with mask ventilation or oesophageal intubation in those cases of TA associated with a TOF. We suggest to consider a fetal magnetic resonance imaging (MRI) when the association polyhydramnios/lung hyperechogenicity occurs, even in the absence of CHAOS or other malformations. Once a diagnosis is provided, the mother should be transferred to selected centres where an ex-utero intrapartum procedure (EXIT) can be attempted. Moreover, despite high mortality, different surgical management are described to improve survival. |
| first_indexed | 2024-12-21T21:46:18Z |
| format | Article |
| id | doaj.art-ac53129fdda043008f3a6663a48576bb |
| institution | Directory Open Access Journal |
| issn | 1824-7288 |
| language | English |
| last_indexed | 2024-12-21T21:46:18Z |
| publishDate | 2020-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj.art-ac53129fdda043008f3a6663a48576bb2022-12-21T18:49:13ZengBMCItalian Journal of Pediatrics1824-72882020-07-014611410.1186/s13052-020-00861-0Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperecogenicity and polyhydramnios: a case reportAlessandro Perri0Maria Letizia Patti1Annamaria Sbordone2Giovanni Vento3Rita Luciano4Department of Woman and Child Health and Public Health, Child Health Area; Fondazione Policlinico Universitario A. Gemelli, IRCCS, Università Cattolica del Sacro CuoreDepartment of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro CuoreDepartment of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro CuoreDepartment of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro CuoreDepartment of Woman and Child Health and Public Health, Child Health Area; Fondazione Policlinico Universitario A. Gemelli, IRCCS, Università Cattolica del Sacro CuoreAbstract Background Tracheal agenesis (TA) is a rare disorder usually diagnosed prenatally when a congenital high airway obstruction syndrome (CHAOS) is identified. We present a case of unexpected TA in a neonate without prenatal diagnosis of airway obstruction, with a difficult management at birth. Moreover, we discuss about differential diagnosis, classification and treatment issues. Case presentation A 2280 g female neonate was born at 35 week gestational age (GA) with prenatal diagnosis of aortic coarctation, polyhydramnios and diffuse hyperechogenicity of the right lung. At birth, the neonate had no audible cry, no air entry to the lungs, and hypotonia. Tracheal intubation was unsuccessful, and no visualization of the trachea was obtained when tracheostomy was attempted. Post-mortem examination showed tracheal agenesis associated with tracheoesophageal fistula and revealed no cardiologic malformations. Aortic coarctation had been suspected prenatally because of the first portion of the descendent thoracic aorta being compressed by a fibrous band connecting the proximal and distal tracheal branches. CHAOS had not developed due to the tracheoesophageal fistula (TOF). Conclusions TA is not always diagnosed in the fetus and it may present unexpectedly making the neonate’s management at birth critical. An effective rescue temporary oxygenation may be obtained with mask ventilation or oesophageal intubation in those cases of TA associated with a TOF. We suggest to consider a fetal magnetic resonance imaging (MRI) when the association polyhydramnios/lung hyperechogenicity occurs, even in the absence of CHAOS or other malformations. Once a diagnosis is provided, the mother should be transferred to selected centres where an ex-utero intrapartum procedure (EXIT) can be attempted. Moreover, despite high mortality, different surgical management are described to improve survival.http://link.springer.com/article/10.1186/s13052-020-00861-0AgenesisTracheaCongenital malformationsAirway obstruction |
| spellingShingle | Alessandro Perri Maria Letizia Patti Annamaria Sbordone Giovanni Vento Rita Luciano Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperecogenicity and polyhydramnios: a case report Italian Journal of Pediatrics Agenesis Trachea Congenital malformations Airway obstruction |
| title | Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperecogenicity and polyhydramnios: a case report |
| title_full | Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperecogenicity and polyhydramnios: a case report |
| title_fullStr | Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperecogenicity and polyhydramnios: a case report |
| title_full_unstemmed | Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperecogenicity and polyhydramnios: a case report |
| title_short | Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperecogenicity and polyhydramnios: a case report |
| title_sort | unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation lung hyperecogenicity and polyhydramnios a case report |
| topic | Agenesis Trachea Congenital malformations Airway obstruction |
| url | http://link.springer.com/article/10.1186/s13052-020-00861-0 |
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