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  • Title: Klippel-Trenaunay syndrome in a young patient with the involvement of gastrointestinal and genitourinary tracts: an unusual and rare presentation.
    Author: Shaikh OH, Kumbhar US, Jain A, Chakkalakkoombil SV.
    Journal: BMJ Case Rep; 2021 Mar 02; 14(3):. PubMed ID: 33653847.
    Abstract:
    Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder characterised by capillary and venous malformations and soft-tissue hypertrophy with or without lymphatic malformation. The involvement of the gastrointestinal tract and genitourinary tract is uncommon in KTS. We present a case of a young adult who presented to us with bleeding per rectum and varicosities of the left lower limb. The patient was evaluated and diagnosed to have KTS. The patient was managed conservatively. To best of our knowledge, this is the first case report in literature where KTS was associated with atypical varicose veins of the left lower limb with mild hypertrophy of the lower limb, localised hypertrophy of the right gluteal region with involvement of pelvis, rectum, bladder and seminal vesicle.
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