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DOI: 10.1055/a-2231-3349
Bilateral Diaphragmatic Agenesis in Cornelia de Lange Syndrome
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Case Presentation
A neonate was born via cesarean section at 35+4 weeks of gestation weighing 2310 g (13th percentile) and presenting with clinical signs of severe respiratory distress. The X-ray revealed bilateral diaphragmatic hernia, which led to displacement of both liver and stomach into the respective thoracic cavities ([Fig. 1]). Antenatal dysmorphic features such as microcephaly, elongated eyelashes ([Fig. 2a]), and retrognathia had already led to the suspicion of Cornelia de Lange syndrome (CdLS), later confirmed genetically. In addition, based on intrauterine Magnetic Resonance Imaging (MRI), severe lung hypoplasia as a result of bilateral Congenital Diaphragmatic Hernia (CDH) ([Fig. 2b]) was expected.
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Postnatal treatment was done according to the EURO consortium guidelines for CDH [1] using immediate intubation and invasive mechanical ventilation. However, despite the administration of inhaled Nitric Oxide (iNO) and High Frequency Oscillatory Ventilation (HFOV), the infant's oxygenation progressively deteriorated. In view of the poor prognosis, the multidisciplinary team decided not to proceed with Extra-Corporeal Membrane Oxygenation (ECMO), so the newborn died at the age of four hours.
Publication History
Article published online:
29 January 2024
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References
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- 2 Rousan LA, Al-Nussair B, Qudah HA, Bataineh AZ. Bilateral congenital diaphragm agenesis in a neonate with hydrocephalus: case report. Eur J Radiol open 2020; 7: 100270
- 3 Holder AM, Klaassens M, Tibboel D. et al. Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet 2007; 80: 825-845
- 4 Chatterjee D, Ing RJ, Gien J. Update on congenital diaphragmatic hernia. Anesth Analg 2020; 131: 808-821