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Z Geburtshilfe Neonatol
DOI: 10.1055/a-2231-3349
Perinatalmedizin in Bildern

Bilateral Diaphragmatic Agenesis in Cornelia de Lange Syndrome

Lena-Marie Fritsch
1   Div. of Neonatology and Pediatric Critical Care Medicine
,
Konrad Reinshagen
2   Dept. of Pediatric Surgery
,
Sofia Apostolidou
1   Div. of Neonatology and Pediatric Critical Care Medicine
,
Dominique Singer
1   Div. of Neonatology and Pediatric Critical Care Medicine
,
Usha Peters
3   Gemeinschaftspraxis für Humangenetik und Genetische Labore, Altonaer Straße, Hamburg
,
Manuela Tavares de Sousa
4   Dept. of Obstetrics and Fetal Medicine
,
Jochen Herrmann
5   Dept. of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf
,
Philipp Deindl
1   Div. of Neonatology and Pediatric Critical Care Medicine
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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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Fig. 1 Postnatal X-ray (35+4 Weeks of Gestation). The herniation of both liver (right) and stomach (left) into the respective thoracic cavities reveals bilateral diaphragmatic agenesis. The heart is strongly displaced, the small aerated triangles in the upper part of the chest reflect the severely hypoplastic lungs.
Zoom Image
Fig. 2 Prenatal imaging (26+3 Weeks of Gestation). a Elongated eyelashes (EL) in an ultrasound image as a suspected sign of Cornelia de Lange syndrome. b Intrauterine MRI of severe pulmonary displacement / hypoplasia (Lu=lung) as a result of the bilateral herniation of abdominal organs (Li=liver, St=stomach) into the respective thoracic cavities.

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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