Stecher Priscilla,  Ordonez Alvaro,  Noor Abass

Final Pr. ID: Poster #: CR-023

Klippel-Trenaunay Syndrome (KTS) is a rare cutaneous vascular malformation syndrome involving capillary, venous, and lymphatic malformations often involving a unilateral lower limb. Patients with KTS can also have disease involvement of the gastrointestinal (GI) tract, predisoposing patients to GI bleeding. Here, we present a case of a 15-year-old male with known congenital Klippel-Trenaunay Syndrome involving the left lower extremity presenting with acutely worsening rectal bleeding. The patient presented with two weeks of rectal bleeding, fatigue, and weakness. On initial evaluation, the patient was found to have acute drop in hemoglobin concerning for active GI bleeding. Initial imaging included a tagged red blood cell scan, which demonstrated diffuse increased radiotracer activity along the left hemiabdomen, consistent with active bleed. However, the etiology/source of bleeding at this time could not be determined due to the extensive abdominal involvement. Further evaluation included CT angiography of the abdomen and pelvis, which revealed a large, extensive venous malformation extending throughout the wall of the descending and rectosigmoid colon, with venous malformation extending throughout the left lateral pelvic musculature. Arterial phase imaging demonstrated abnormal enhancement of the mucosa of the descending and rectosigmoid colon, and venous phase imaging demonstrated contrast blushing throughout the descending colon concerning for active bleeding, without clear identifiable source. Due to decline in clinical status and refractory anemia requiring massive transfusion, the patient was evaluated surgically and subsequently underwent emergent colectomy and left lower quadrant ostomy placement. Intraoperative findings demonstrated a massively dilated sigmoid colon with complex tangle of cavernous venous malformations involving approximately two feet of bowel. In setting of a technically challenging operation, the patient’s post-operative course has been complicated by rectal stump dehiscence, multiple pelvic abscesses, and guarded prognosis. In summary, KTS is a rare syndrome involving extensive capillary, lymphatic, and venous malformations, with gastrointestinal involvement predisposing patients to potential life-threating GI bleeding. Here we review a case of a 15-year-old male with KTS presenting with refractory GI bleeding in an extensive colonic vascular malformation necessitating emergent colectomy. Read More

Authors:  Stecher Priscilla , Ordonez Alvaro , Noor Abass

Keywords:  Klippel-Trenaunay Syndrome, Venous Malformation, Rectal Bleeding

Salman Rida

Final Pr. ID: Poster #: CR-020

Early onset colorectal cancer (EOCRC) in children has an incidence of approximately 1 per million, representing only 1% of all pediatric malignancies. Despite being rarer in the pediatric population, pediatric rectal carcinoma is on the rise and has worse outcomes than in adults. A large cohort study identified adenocarcinoma as the most common rectal tumor in pediatric patients and the major cause of death in this category of patients. Most EOCRC tumors are sporadic, with only 20-30% of patients having a hereditary genetic predisposition with Lynch syndrome being the most common hereditary cancer syndrome implicated in the pathogenesis of EOCRC. Pediatric rectal tumors tend to be larger and more likely to have lymph node involvement, and distant metastases.

The subject of this case is a 17-year-old female presenting with rectal bleeding and weight loss. She underwent a colonoscopy which was suggestive of proctitis and biospies were taken. The clinical presentation and scope exam were suggestive of inflammatory bowel disease such as ulcerative colitis. Magnetic resonance enterography (MRE) was ordered to check for small bowel disease involvement. MRE showed circumferential rectal wall thickening and enhancement with corresponding restricted diffusion, associated with multiple polypoid lesions protruding into the perirectal fat and some of which appears inseparable from the adjacent uterus. There were also multiple enlarged perirectal lymph nodes. The biopsies from the colonoscopy demonstrated non specific inflammatory changes. Based on the MRE findings which were suggestive of malignant process, a biopsy of one of the rectal polyps was performed and showed evidence of rectal adenocarcinoma. CT chest, abdomen and pelvis demonstrated metastatic lung nodules and liver lesion. Staging rectal MRI was also performed at an outside adult institution. Patient was then started on chemotherapy. Genetic testing identified a heterozygous germline variant of uncertain significance in the POLD1 gene. Germline POLD1 mutations were historically associated with polyposis of the GI tract and early onset colorectal cancer and there have been increasing reports of patients with mutations in this gene who did not have polyps prior to cancer development.

The aim of this case report is to underscore the importance of exploring this diagnosis when imaging findings do not align with a suspected benign condition. Read More

Authors:  Salman Rida

Keywords:  Rectal Bleeding, MR Enterography, Cancer