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Klippel-trenaunay Syndrome: Case Report

Year: 2024

Type: article

Abstract: Klippel-Trenaunay Syndrome (KTS) is a rare condition characterized by vascular malformations and tissue hypertrophy. This report describes the case of a 24-year-old male patient diagnosed in childhood, with constant mild rectal bleeding, who underwent sclerotherapy at the age of 8 with no significant improvement. Other conditions were ruled out. The patient continued the annual follow-up with colonoscopies for eight years. In 2015, the examination revealed vascular lesions with ulcerations in the distal and mid-rectum, as well as a hemangioma in the upper segment, indicating rectal involvement by KTS. In 2020, the patient reported worsening bleeding and rectal pain but managed the condition with analgesics due to the COVID-19 pandemic. In 2023, an ileocolonoscopy detected a friable lesion 2 cm from the anal margin, extending 8 cm, and a biopsy revealed a hyperplastic polyp. In 2024, a sigmoidoscopy highlighted an ulcerated lesion in the mid and lower rectum, suggesting neoplasia or inflammation. MRI showed wall thickening of the rectum and anal canal with high T2 signal, without extramural involvement, suggesting diffuse rectal hemangioma or inflammatory lesions. A cystic lesion was also identified in the deep post-anal space, suggestive of a retrorectal hamartoma or enteric cyst. The final histopathological examination revealed an ulcerated lesion with edematous connective tissue, capillary neogenesis, and leukocytic infiltrate, with adjacent hyperplastic and benign mucosa. Current management includes follow-up colonoscopy and cauterizations. KTS is a rare congenital condition characterized by cutaneous hemangiomas, bone hypertrophy, and vascular malformations, primarily affecting the lower limbs. The etiology is uncertain, and the lesions appear from birth. Gastrointestinal involvement is rare but can cause bleeding. In this case, the patient had an atypical manifestation of KTS with rectal involvement and symptoms mimicking colorectal cancer. The worsening of the condition during the pandemic underscores the need for continuous monitoring. Imaging and biopsy findings showed vascular and cystic lesions, helping define the case and guide the non-interventional approach. The management with colonoscopies and cauterization aims to control bleeding and prevent complications. Publication History Article published online: 25 April 2025 © 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/) Thieme Revinter Publicações Ltda. Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil

Source: Journal of Coloproctology

DOI: 10.1055/s-0045-1808794