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Radiol Case Rep
Radiol Case Rep
Radiology Case Reports
1930-0433
Elsevier

S1930-0433(24)00852-5
10.1016/j.radcr.2024.08.069
Case Report
Giant omphalocele with right lung agenesia and bronchial tracheal hypoplasia: A case report
De Bernardo Giuseppe pinodebtin@gmail.com
ab⁎
Giovengo Marta b
Sordino Desiree c
Giordano Maurizio d
Zeccolini Massimo e
a Department of Woman and Child, Buon Consiglio Fatebenefratelli Hospital, Naples, Italy
b Department of Medicine and Surgery, “Scuola Medica Salernitana”, Section of Pediatrics, University of Salerno, Salerno, Italy
c Department of Emergency, NICU, “Santobono-Pausillipon” Children's Hospital, Naples, Italy
d Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy
e Radiology Unit, “Santobono-Pausilipon” Children's Hospital, Naples, Italy
⁎ Corresponding author. pinodebtin@gmail.com
05 9 2024
11 2024
05 9 2024
19 11 55355538
1 8 2024
12 8 2024
© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.
2024

https://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/).
The omphalocele is an abdominal wall defect at the base of the umbilical cord, with the worldwide prevalence of 2.6 per 10,000 births. Omphalocele contains herniated abdominal organs and is classified in small and giant based on the size of the defect. Omphalocele is associated with several syndromes or structural anomalies. We reported a case of giant omphalocele of 6 cm with right lung agenesis with tracheal and right bronchial hypoplasia. Laryngeal mask stabilized the newborn allowing endotracheal intubation. Due to serious malformations, the newborn died after few hours of life for cardio-respiratory arrest. Early and accurate prenatal diagnosis allows a better intervention strategies in delivery room, improving the chances of survival and reducing complications for infants with omphalocele.

Keywords

Omphalocele
Lung hypoplasia
Newborn
Laryngeal mask
Tracheal malformation
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pmcIntroduction

The omphalocele is an abdominal wall defect at the base of the umbilical cord, with the worldwide prevalence of 2.6 per 10,000 births [1]. The defect is covered by a 3-layer membranous sac consisting of amnion, Wharton's jelly, and parietal peritoneum, unless the sac has ruptured. The umbilical cord vessels insert at the apex of the sac. Omphalocele contains herniated abdominal organs and, depending on the contents, omphaloceles are categorized as either liver-containing or nonliver-containing. Small defects generally can be closed in the first 24 to 72 hours of life. Large defects usually require some type of silo in the first 24 hours and delayed closure. This wall defect occurs during the fetal initial life, between 6-7 weeks of gestational age and it can be sonographically evident in the 9-10 weeks of postmenstrual age [2]. Prenatal diagnosis of a nonliver-containing omphalocele can be made reliably after 12 weeks of gestational age. Before 12 weeks of gestational age, a small omphalocele can be difficult to differentiate from physiologic midgut herniation. Omphalocele is classified in [3]:• “small”: <5 cm and containing a few loops of intestines.

• “giant”: ≥5 cm or relative size to the fetal abdomen (omphalocele cross-sectional area >50 percent of that of the fetal torso) and containing most of the liver (>50 to 75 percent).

Omphalocele has been associated with several syndromes like Beckwith-Wiedemann syndrome, trisomy 13, trisomy 18, and trisomy 21 [4]. Associated structural anomalies are common, occurring in 35% to 80% of cases [5], including cardiac (7%-47%), gastrointestinal (3%-20%), genitourinary (6%-20%), chromosomal (3%-20%), musculoskeletal (4%-25%) and central nervous system abnormalities (4%-30%) [6]. Of these abnormalities, cardiac defects have the most substantial impact on outcomes and survival [7]. Abnormalities in lung growth and development can occur and can lead to pulmonary hypoplasia, pulmonary hypertension, and alterations in thoracic cage formation [8,9]. Given the increased incidence of cardiac abnormalities, a fetal echocardiogram should be performed after the omphalocele is diagnosed and it may also be useful to evaluate pulmonary vein abnormalities [6].

Case report

A late preterm male newborn was born via Cesarean section at 36 weeks of gestational age, with a birth weight of 2500 grams. The pregnancy was induced in a 34-year-old woman by in vitro fecundation. At 21 and 30 weeks of gestational age, prenatal ultrasound identified a giant omphalocele (GO). At birth, the infant was placed on the infant warmer, and dense secretions were promptly aspirated. A GO of 6 cm was enclosed in a sterile polyurethane bag and fixed to the skin, and the umbilical cord was immediately clamped distally at 15 cm to facilitate surgical repair. An orogastric tube of 8 French was placed, and the newborn was positioned on the right side to promote perfusion. At 1 minute of life, the APGAR score was 7, with a heart rate over 100 beats per minute but insufficient air penetration which required a support with nasal continuous positive airway pressure (nCPAP) at 5 cm H2O and FiO2 of 0.21. Oximeter was placed on the right hand and FiO2 was increased to 0.4 after 2 minutes. Crying and skin color improved, and the 5-minute APGAR score was 8. Due to respiratory difficulty, nCPAP was continued, and FiO2 was increased to 1 due to suboptimal saturations. The Emergency Neonatal Transport Service was alerted. Due to reduced ventilation of the right chest with negative transillumination of the right lung, orotracheal intubation was attempted but was unsuccessful. A laryngeal mask sized 1 was placed and assistance was provided stabilizing the newborn and allowing the intubation. A chest X-ray showed the endotracheal tube in anomalous position and the consolidation of the right lung fields with mediastinal shift (Fig. 1). Peripheral venous access was established, and the infant was transferred to a referral center after sufficient stabilization. A computerized tomography scan (CT) of the chest revealed right lung and right bronchial agenesis with tracheal and left bronchial hypoplasia (Figs. 2A and B) and giant omphalocele (Fig. 3). Due to serious malformations, the newborn died after few hours of life for cardio-respiratory arrest. No surgery correction was performed. Tracheostomy was not possible for the severe abnormalities.Fig. 1 In the coronal plane, chest X-ray revealed the anomalous position of endotracheal tube (1 black arrow), the consolidation of the right lung fields with mediastinal shift (double black arrows).

Fig 1:

Fig. 2 (A) In the coronal plane, computerized tomography revealed right lung and right bronchial agenesis (1 black arrow) with tracheal (double black arrow) and left bronchial hypoplasia (triple black arrows). (B) In the transverse plane, computerized tomography revealed a left bronchial hypoplasia (1 black arrow).

Fig 2:

Fig. 3 In the transverse plane, computerized tomography showed a giant omphalocele (1 black arrow).

Fig 3:

Discussion

GO can usually be diagnosed in the first trimester of pregnancy, and due to the high incidence of associated malformations, further examinations such as genetic testing on amniotic fluid and additional imaging studies, including fetal echocardiography are recommended [6,10]. These evaluations can help identify associated anomalies, such as cardiac and pulmonary abnormalities, which significantly impact on neonatal outcomes and mortality [1,11]. Recent studies, additionally, suggest that magnetic resonance imaging should be performed to detect pulmonary evaluation markers, as newborns with omphalocele and pulmonary malformations have a high mortality rate [12,13]. Delivery room management includes quickly wrapping the contents of the omphalocele, clamping and cutting the umbilical cord distally to facilitate its use in reconstructive surgery. It is important to place an orogastric tube and position the newborn on the right side to improve perfusion [14]. The use of a laryngeal mask proved to be crucial in managing the newborn's airway when orotracheal intubation was initially unsuccessful. This highlights the importance of having alternative airway management strategies readily available in neonatal resuscitation settings [[15], [16], [17]]. They were not reported in literature cases of omphalocele associated with pulmonary agenesis and tracheal hypoplasia. However, a similar clinical picture has been described in murine models linked to alterations in the ERK/MAPK pathway [18].

Conclusion

Our study demonstrates that comprehensive diagnostic evaluation would have enabled a better multidisciplinary approach since early and accurate prenatal diagnosis allows better intervention strategies in the delivery room, improving the chances of survival and the outcomes in infants with omphalocele. Improving prenatal diagnosis is fundamental also for a better prenatal counselling, which allows parents to obtain an adequate information regarding the consequence of associated malformations.

Patient consent

Written informed consent was obtained from the parents of the newborn.

Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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References

1 Nembhard WN Bergman JEH Politis MD Arteaga-Vázquez J Bermejo-Sánchez E Canfield MA A multi-country study of prevalence and early childhood mortality among children with omphalocele Birth Defects Res 112 20 2020 1787 1801 10.1002/bdr2.1822 33067932
2 Cyr DR Mack LA Schoenecker SA Patten RM Shepard TH Shuman WP Bowel migration in the normal fetus: US detection Radiology 161 1 1986 119 121 10.1148/radiology.161.1.2945223 2945223
3 Kleinrouweler CE Kuijper CF van Zalen-Sprock MM Mathijssen IB Bilardo CM Pajkrt E. Characteristics and outcome and the omphalocele circumference/abdominal circumference ratio in prenatally diagnosed fetal omphalocele Fetal Diagn Ther 30 1 2011 60 69 10.1159/000323326 21325785
4 Corey KM Hornik CP Laughon MM McHutchison K Clark RH Smith PB. Frequency of anomalies and hospital outcomes in infants with gastroschisis and omphalocele Early Hum Dev 90 8 2014 421 424 10.1016/j.earlhumdev.2014.05.006 24951080
5 Fleurke-Rozema H van de Kamp K Bakker M Pajkrt E Bilardo C Snijders R. Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program Prenat Diagn 37 4 2017 383 388 10.1002/pd.5023 28219116
6 Verla MA Style CC Olutoye OO. Prenatal diagnosis and management of omphalocele Semin Pediatr Surg 28 2 2019 84 88 10.1053/j.sempedsurg.2019.04.007 31072463
7 Ayub SS Taylor JA. Cardiac anomalies associated with omphalocele Semin Pediatr Surg 28 2 2019 111 114 10.1053/j.sempedsurg.2019.04.002 31072458
8 Kamata S Usui N Sawai T Nose K Fukuzawa M. Prenatal detection of pulmonary hypoplasia in giant omphalocele Pediatr Surg Int 24 1 2008 107 111 10.1007/s00383-007-2034-3 17960394
9 Panitch HB. Pulmonary complications of abdominal wall defects Paediatr Respir Rev 16 1 2015 11 17 10.1016/j.prrv.2014.10.004 25458796
10 Cubo AM Lapresa Alcalde MV Gastaca I Rodríguez-Martín MO Martín Seisdedos MC Velasco Ayuso MVR Giant isolated omphalocele: role of prenatal diagnosis in prognostic asessment and perinatal management Case Rep Med 2020 2020 4578912 10.1155/2020/4578912
11 Barrios Sanjuanelo A Abelló Munarriz C Cardona-Arias JA Systematic review of mortality associated with neonatal primary staged closure of giant omphalocele J Pediatr Surg 56 4 2021 678 685 10.1016/j.jpedsurg.2020.08.019 32981659
12 Gallagher LT Lyttle BD Meyers ML Gien J Zaretsky MV Galan HL Fetal lung volumes measured by MRI predict pulmonary morbidity among infants with giant omphaloceles Prenat Diagn 43 12 2023 1514 1519 10.1002/pd.6449 37807606
13 Danzer E Edgar JC Eppley E Goldshore MA Chotzoglou E Herkert LM Predicting neonatal outcomes in infants with giant omphalocele using prenatal magnetic resonance imaging calculated observed-to-expected fetal lung volumes Prenat Diagn 41 11 2021 1439 1448 10.1002/pd.6040 34473853
14 Weiner GM Zaichkin J. Textbook of neonatal resuscitation (8th Edition) Special Considerations 10 2021 243 263 10.1542/9781610025256
15 Barbieri E Giordano M Sorgente G Borgia G Improta M Colonna M Use and efficacy of I-Gel in complicated intubations in newborn infants: a review of case reports in the literature Curr Pediatr Rev 21 1 2024 51 55 10.2174/0115733963295361240426064436
16 Galderisi A De Bernardo G Lorenzon E Trevisanuto D i-gel: a new supraglottic device for effective resuscitation of a very low birthweight infant with Cornelia de Lange syndrome BMJ Case Rep 2015 10.1136/bcr-2014-209124
17 Trevisanuto D Gizzi C Cavallin F Beke A Buonocore G Charitou A Laryngeal mask airway in neonatal resuscitation: a survey of the union of European neonatal and perinatal societies Neonatology 2024 10.1159/000538808
18 Boucherat O Landry-Truchon K Aoidi R Houde N Nadeau V Charron J Lung development requires an active ERK/MAPK pathway in the lung mesenchyme Dev Dyn 246 1 2017 72 82 10.1002/dvdy.24464 27748998
