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An atypical Klippel-Treanunay-Weber syndrome

Journal: Archives of Pulmonology and Respiratory Care (Vol.4, No. 1)

Publication Date:

Authors : ; ;

Page : 012-014

Keywords : Klippel-treanunay syndrome; Parkes we- ber syndrome; Klippel-treanunay-weber syndrome;

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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

Last modified: 2018-11-16 17:43:05