Newly Diagnosed Klippel-Trenaunay Syndrome Presenting with Rectal Polyposis in a Male Pediatric Patient: A Case Report

Abstract

Klippel-Trenaunay syndrome (KTS) is a rare disorder characterized by a triad of abnormal bone and soft tissue growth, the presence of a port-wine stain, and venous malformations. Gastrointestinal (GI) manifestations of KTS are relatively common and generally do not cause significant problems. However, persistence can lead to chronic GI blood loss or even massive bleeding in rare cases. The majority of the severe GI manifestations associated with KTS present as vascular malformations around the GI tract and exposed vessels can lead to serious bleeding into the GI tract. Herein, we report a case of a 16-year-old boy with severe iron deficiency anemia who was previously misdiagnosed as hemorrhoid due to small amount of chronic bleeding. The actual cause of chronic GI bleeding was from an uncommon GI manifestation of KTS as rectal polyposis.

Gastrointestinal bleeding: a life threatening manifestation of Klippel–Trenaunay syndrome

“…Klippel–Trenaunay syndrome (KTS) is a rare congenital syndrome of venous, lymphatic and capillary malformations and is characterized by soft tissue and bony hypertrophy, presence of a port wine stain and vascular venous malformations 1 . There have been reports of vascular malformations affecting the gastrointestinal (GI) tract, liver and spleen and following a progressive course; however, this is rare and frequently underdiagnosed 2 …”

“…The clinical spectrum of GI bleeding may vary from asymptomatic occult bleeding to life threatening GI haemorrhage. Most cases of GI involvement in KTS are rarely symptomatic; however, reports of mortality have been established 1 . The most common GI manifestation is vascular malformation at the rectum and distal colon.…”

“…of venous, lymphatic and capillary malformations and is characterized by soft tissue and bony hypertrophy, presence of a port wine stain and vascular venous malformations. 1 There have been reports of vascular malformations affecting the gastrointestinal (GI) tract, liver and spleen and following a progressive course; however, this is rare and frequently underdiagnosed. 2 We report a case of a 29 year old woman with known KTS who presented with life threatening rectal bleeding secondary to GI manifestation of KTS.…”

“…Most cases of GI involvement in KTS are rarely symptomatic; however, reports of mortality have been established. 1 The most common GI manifestation is vascular malformation at the rectum and distal colon. Occasionally, these exposed vessels can erode leading to serious bleeding into the GI tract due to mucosal trauma from the passage of faeces or secondary to increased pressure during defecation.…”