Congenital chylothorax and trisomy 21 syndrome

Therese-Mary William


Introduction: Congenital chylothorax is known as abnormal leakage and accumulation of chyle in the pleural space. Chyle is a lymphatic fluid of intestinal origin. Although congenital chylous effusions are relatively rare in infancy, they have serious clinical consequences and can be potentially life-threatening disorder. Some case reports including this one suggest that there may be more patients with trisomy 21 syndrome associated with congenital chylothorax. To the best of our knowledge, there are no evidence-based guidelines to support the use of octreotide in chylothorax management as first-line agent. Our case management provides an evidence that octreotide is more effective than medium-chain triglyceride (MCT) in treating chyle accumulation. We aim to provide guidance for the optimal management of congenital chylothorax in infancy.

Case summary: Here, we report a case of a premature baby born at 30 weeks gestation. Baby was diagnosed antenatally with trisomy 21 syndrome and severe bilateral congenital pleural effusions which subsequently confirmed after birth as chylothorax. Bilateral thoracenteses were performed and bilateral chest tubes were inserted soon after birth. Expressed breast milk and MCT formula was introduced in the first week of life; however, chylothoraces significantly re-accumulated. Congenital chylothorax was treated successfully after administration of octreotide infusion along with intercostal decompression of the pleural effusion and total parenteral nutrition (TPN) as adjunctive therapy. In our case there wasn’t any complication with the use of octreotide.

Conclusion: This case is of particular interest because it provides an evidence for the efficacy of octreotide usage in chylothorax management. The MCT diets have been used as first-line treatment; however, its efficacy has met with variable success in treating chylothorax. Therefore, octreotide may be used as first-line agent along with adjunctive therapy of parenteral nutrition and intercostal thoracostomy to decompress the pleural effusion. The early administration of octreotide may allow the patient to avoid invasive procedures. Some case reports including this one suggest that congenital chylothorax might be listed as one of trisomy 21 syndrome complications.


trisomy 21 syndrome; congenital chylothorax; chylomicrons; octreotide; thoracocentesis; total parenteral nutrition

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