An atypical Klippel-Treanunay-Weber syndrome

Muammer Bilir, Cuneyt Tetikkurt* and Halil Yanardag

A 44 year old female was referred for hyperbaric oxygen treatment of leg ulcers. The patient had

port-wine stain, hand vitiligo, hypertrophy of one extremity, collateral abdominal, and varicose leg veins.

Calcium was 12 mg/dL and PTH was 309 ng/L. Hepatomegaly, deep vein thrombosis of the right leg,

transudative ascites, hypersplenism, parathyroid adenoma, mesenteric cyst, and papillary thyroid

carcinoma were identifi ed. The fi nal clinical diagnosis was Klippel-Treanunay-Weber syndrome.

Several theories such as intrauterine damage to sympathetic ganglia, deep vein abnormalities,

mesodermal and ectodermal dysplasia exist for the pathogenesis of this syndrome. This is the fi rst case

of Klipel-Treanunay -Weber syndrome with coexisting vitiligo, hypersplenism, non-chirrotic hepatic fi brosis,

a mesenteric cyst, a parathyroid adenoma, and a papillary thyroid carcinoma. The vitiligo, mesenteric cyst,

parathyroid adenoma, and the papillary thyroid carcinoma are associated with the genetic abnormalities

of the syndrome while hypersplenism and hepatic fi brosis are the late complications the disease.

Keywords: Klippel-Treanunay syndrome; Parkes Weber syndrome; Klippel-Treanunay-Weber syndrome

Published on: Oct 30, 2018 Pages: 12-14

Full Text PDF Full Text HTML DOI: 10.17352/aprc.000033
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