IMPE Abstracts

Introduction: Klippel-Trenaunay syndrome is a rare disease, characterized by capillary malformations, vascular anomalies and hypertrophy of bony and soft tissues. In this disease adrenal pseudocyst and rarely Cushing syndrome due to bilateral adrenal gland adenomas had been described.

Objective: To report findings in adrenal gland in a patient with Klippel-Trenaunay syndrome

Case Report: A 12-year-old girl born at term after normal gestation and delivery presented a vascular malformation in left leg that lead to several bleeding event during childhood with diagnosis of Klippel-Trenaunay syndrome. She had slight dorsal-lumbar scoliosis She was referred to endocrinologist due to the finding of a calcification lesion seen next to right spinal lumbar region detected in a spine radiography. In a previous spine radiography performed two years ago the lesion was present but it was not noticed. The US showed a lesion of cystic appearance of 21 mm that probably belong to the adrenal gland with heterotopic calcifications of around 8 mm. Up-on examination: height in 90 pc, normal weight, slight hirsutism and acne without signs of virilization. No rounded face, or stretch marks normal blood pressure Laboratory showed 17 hydroxyprogesterone 2.7 ng/ml (0.15-1.1), androstenedione 3.7 ng/ml (0.3-3.5) testosterone 0.4 ng/ml (0-0.8), SDHEA 4743 ng/ml (1000-4300). Normal aldosterone, ARP, plasmatic sodium and potassium. Also was normal the plasmatic cortisol, ACTH, free urinary and salivary cortisol. Normal puberal estradiol, LH and FSH. The epinephrine, norepinephrine, metanephrine, normetanephrine and vanillin mandelic acid were normal. Adrenal CT with contrast confirmed an hypodense adrenal mass of 19 x 27 mm with peripheral nodular calcifications. Due to hyperandrogenemia a nodular adrenal disease associated to congenital adrenal hyperplasia (CAH) was suspected. The study of CYP21A2 revealed an heterozygous deletion of 30Kb inherited from her mother. CAH was not confirmed, so surgery was performed with complete remotion of the mass. Histologic study revealed Combined venous - lymphatic vascular malformation

Conclusion: The presence of typical vascular malformation of Klippel-Trenaunay syndrome in the adrenal gland should be consider during the study of an adrenal mass in patients with Klippel-Trenaunay syndrome. This finding had not been previously reported in the literature to our knowledge.