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Diffuse cavernous hemangioma of the colon in the Klippel-Trenaunay syndrome
Insights
Children with Klippel-Trenaunay syndrome can develop large colon hemangiomas, causing rectal bleeding. Diagnostic imaging and procedures aid in identifying these vascular malformations for appropriate management.
Area of Science:
- Vascular Malformations
- Pediatric Gastroenterology
- Medical Genetics
Background:
- Klippel-Trenaunay syndrome is a rare congenital disorder characterized by port-wine stains, venous malformations, and limb overgrowth.
- Colonic hemangiomas are uncommon vascular tumors that can present with significant gastrointestinal bleeding, particularly in pediatric patients.
- The association between Klippel-Trenaunay syndrome and visceral hemangiomas, including those in the colon, requires careful consideration for diagnosis and management.
Observation:
- Three pediatric patients with Klippel-Trenaunay syndrome presented with large, infiltrative cavernous hemangiomas of the distal colon.
- Clinical manifestation included intermittent rectal bleeding, typically starting before the age of five.
- Radiographic findings revealed varicose lesions in the rectosigmoid wall, rectal narrowing due to extramural hemangioma, and intralesional phleboliths.
Findings:
- The study identified specific radiographic features indicative of colonic hemangiomas in Klippel-Trenaunay syndrome.
- Inferior mesenteric angiography and sigmoidoscopy were found to be valuable tools for preoperative diagnosis.
- The presence of these vascular lesions highlights a significant gastrointestinal complication associated with Klippel-Trenaunay syndrome.
Implications:
- Early recognition of colonic hemangiomas in Klippel-Trenaunay syndrome is crucial for preventing severe bleeding and complications.
- Accurate preoperative diagnosis using imaging and endoscopic techniques is essential for effective surgical planning.
- Understanding the spectrum of visceral involvement in Klippel-Trenaunay syndrome informs comprehensive patient care and management strategies.
Abstract:
Large, infiltrative cavernous hemangiomas of the distal colon were present in 3 children with the Klippel-Trenaunay syndrome, 2 of whom are the subject of this report. The lesion is manifested clinically as intermittent rectal bleeding starting in the first 5 years of life. The radiographic features include (a) varicose lesions in the wall of the rectosigmoid, ranging from a network of distended submucosal veins to nodular defects, (b) narrowing of the rectum by the surrounding extramural portion of the hemangioma, and (c) phleboliths within the lesion. Inferior mesenteric angiography and sigmoidoscopy are useful for preoperative confirmation. The occurrence of visceral hemangiomas in the Klippel-Trenaunay syndrome and its relevant diagnostic and therapeutic implications are discussed.