ABSTRACT

Klippel-Trenaunay syndrome is a rare congenital syndrome with an incidence of 1/100,000 cases per year caused by a sporadic somatic mutation in the PIK3CA gene. It is characterized by a triad of capillary malformations, abnormal growth of soft tissues and bones, usually affecting the lower extremities, and varicose veins in atypical locations. The presentation of chylothorax is rare, and few cases with high recurrence have been documented. The diagnosis of Klippel-Trenaunay syndrome is made through imaging studies to corroborate the malformations and genetic studies that demonstrate the somatic mutation. Regarding the diagnosis of chylothorax, analysis of the pleural fluid is required with a triglyceride result greater than 110 mg/dL. The treatment for chylothorax in the Klippel-Trenaunay syndrome is multidisciplinary, requiring support from nutrition, internal medicine and pulmonology to manage complications, as well as cardiothoracic surgery for definitive treatment.

KEYWORDS

Klippel-Trenaunay syndrome, chylothorax, lymphatic malformations.

REFERENCES

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