An atypical Klippel-Treanunay-Weber syndrome

• Main Authors: Muammer Bilir (Author), Cuneyt Tetikkurt (Author), Halil Yanardag (Author)
• Format: Book
• Published: Archives of Pulmonology and Respiratory Care - Peertechz Publications, 2018-10-30.
• Subjects: Case Report
• Online Access: Connect to this object online.

<p>A 44 year old female was referred for hyperbaric oxygen treatment of leg ulcers. The patient had</p><p>port-wine stain, hand vitiligo, hypertrophy of one extremity, collateral abdominal, and varicose leg veins.</p><p>Calcium was 12 mg/dL and PTH was 309 ng/L. Hepatomegaly, deep vein thrombosis of the right leg,</p><p>transudative ascites, hypersplenism, parathyroid adenoma, mesenteric cyst, and papillary thyroid</p><p>carcinoma were identifi ed. The fi nal clinical diagnosis was Klippel-Treanunay-Weber syndrome.</p><p>Several theories such as intrauterine damage to sympathetic ganglia, deep vein abnormalities,</p><p>mesodermal and ectodermal dysplasia exist for the pathogenesis of this syndrome. This is the fi rst case</p><p>of Klipel-Treanunay -Weber syndrome with coexisting vitiligo, hypersplenism, non-chirrotic hepatic fi brosis,</p><p>a mesenteric cyst, a parathyroid adenoma, and a papillary thyroid carcinoma. The vitiligo, mesenteric cyst,</p><p>parathyroid adenoma, and the papillary thyroid carcinoma are associated with the genetic abnormalities</p><p>of the syndrome while hypersplenism and hepatic fi brosis are the late complications the disease.</p>