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[Neonatal chylothorax with trisomy 21]
O Miera1, E Mildenberger, A van Baalen
1Kinderklinik, Universitätsklinikum Benjamin Franklin, Freie Universität Berlin. miera@dhzb.de
Zeitschrift Fur Geburtshilfe Und Neonatologie
|March 25, 2004
Summary
Neonatal chylothorax, a rare cause of newborn respiratory distress, can be linked to trisomy 21. Careful evaluation for genetic syndromes is crucial in affected infants, especially premature ones with subtle signs.
Area of Science:
- Neonatology
- Genetics
- Pediatric Surgery
Background:
- Neonatal chylothorax is an infrequent cause of respiratory distress in newborns.
- Potential causes include lymphatic drainage anomalies, thoracic duct injury, and superior vena cava obstruction.
- Association with aneuploidy syndromes like trisomy 21 is recognized.
Observation:
- This report details two cases of neonatal chylothorax associated with trisomy 21.
- A term infant presented with pre-natal bilateral pleural effusions and respiratory distress, exhibiting characteristic Down syndrome features.
- A premature infant (24 weeks gestation) developed chylothorax post-ductal ligation and central venous line insertion, showing subtle trisomy 21 signs.
Findings:
- Cytogenetic studies confirmed trisomy 21 in both neonates.
- The term infant had clear dysmorphic features of trisomy 21.
- The premature infant displayed subtle dysmorphic signs suggestive of trisomy 21, including macroglossia and brachycephaly.
Implications:
- Neonatal chylothorax warrants thorough assessment for dysmorphic features indicative of trisomy or monosomy.
- Subtle clinical signs in premature infants necessitate cytogenetic analysis for aneuploidy syndrome diagnosis.
- Early identification of genetic syndromes in neonates with chylothorax can guide management and prognosis.