Pediatr Gastroenterol Hepatol Nutr.  2020 Jan;23(1):115-120. 10.5223/pghn.2020.23.1.115.

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

• Jeong SH
• Joo D
• Lim TJ
• Lee YJ

• KMID: 2467901
• DOI: http://doi.org/10.5223/pghn.2020.23.1.115

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.

Keyword

Gastrointestinal hemorrhage; Polyps; Vascular malformations

MeSH Terms

Adolescent
Anemia, Iron-Deficiency
Gastrointestinal Hemorrhage
Gastrointestinal Tract
Hemorrhage
Hemorrhoids
Humans
Klippel-Trenaunay-Weber Syndrome*
Male*
Polyps
Port-Wine Stain
Vascular Malformations

Figure

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  Fig. 1 Colonoscopy showing multiple numerous sessile and pedunculated (arrow) polyps (A, B) covered with diffuse fibrinous exudative materials in the rectum. Nearly the entire encircled luminal mucosa was affected. (C, D) Tortuous and dilated surface blood vessels are noted on the tip of the polyps.

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  Fig. 2 Diffuse, irregular, marginated, light-red capillary malformations on the trunk (A) and lateral aspect of the lower extremities (B), which are characteristic findings in Klippel-Trenaunay syndrome called port-wine stains. Hypertrophy of the right upper extremity (A) and macrodactyly of the right second toe (C) was also observed.

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  Fig. 3 (A) Histology of the rectal polyp showing diffuse lymphocytic infiltration, crypt dilatation, mucinous infiltration of the crypt, and surface ulcerations. (B) Mucus retained inside the expended crypt ruptured into the lamina propria (arrow) (H&E, ×40).

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  Fig. 4 (A) Coronal and (B, C) axial sections of contrast enhanced abdominal computed tomography showing a huge dilated vein (arrow), the upper portion of which drains into the splenic vein while the lower portion drains into the left internal ileac vein through the superior and middle rectal veins (A-C). (C) Congested small vessels are seen developing around the rectum (arrowhead). (B, C) Circumferential thickening of the rectum is observed along with irregularity and narrowing of the lumen.

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