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Klippel-Trenaunay syndrome in a young patient with the involvement of gastrointestinal and genitourinary tracts: an unusual and rare presentation.

Oseen Hajilal ShaikhUday Shamrao KumbharAnkit JainSunitha Vellathussery Chakkalakkoombil
Published in: BMJ case reports (2021)
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.
Keyphrases
  • lower limb
  • case report
  • young adults
  • soft tissue
  • systematic review
  • healthcare
  • spinal cord injury
  • atrial fibrillation