Clinical Quiz

Abstract

A 4-year-old girl had a 3-month history of passing red blood per rectum and lower abdominal pain. Colonoscopy revealed erythematous rectal and distal sigmoid colon mucosa with a chronic nonspecific inflammatory cell infiltrate in the biopsy tissue specimen. Hemoglobin, leukocyte count, platelet count, and C-reactive protein were all normal. The symptoms recurred after 2 years, when colonscopy and rectal mucosal biopsy findings were unchanged. Hydrocortisone enemas were again prescribed. Follow-up was unsatisfactory, and the family failed to attend several hospital appointments. The patient was referred again at 14 years of age with a 2-year history of a dull ache in the lower abdomen that became worse after a bowel movement, especially if she was moving around. She also reported tenesmus. She would strain for half an hour and pass a small amount of stool and red blood. The blood would continue to drip for a couple of hours after a bowel movement. Menarche occurred when the patient was aged 12 years, with periods that were regular but heavy and associated with flooding and dysmenorrhea. The rectal bleeding showed no cyclical fluctuation but worsened after menarche. Investigation revealed hemoglobin of 7.2 g/dl, mean corpuscular volume of 74 fl, leukocyte count of 14 × 109/l, and erythrocyte sedimentation rate 29 mm/hr. Prothrombin time and partial thromboplastin time were normal. The colonoscopy examination showed erythematous rectal and distal sigmoid mucosa with dilated tortuous vessels (Fig. 1). There were several raised, flat-topped, bluish mucosal lesions in the proximal sigmoid and descending colon. There were crypt abscesses, chronic inflammatory cell infiltration, and fibrosis of lamina propria seen in rectal mucosal tissue specimens. Sigmoid and descending colon biopsy specimens were histologically normal. The patient was treated with senna and oral iron. Mesenteric angiography was normal but a technetium 99–labeled erythrocyte scan showed an abnormal focus of uptake in the abdomen.FIG. 1.A: What is the diagnosis? B: What further investigations should be conducted? Answer: The patient had extensive low-flow venous malformations of the rectum and distal colon. Ultrasound examination showed dilated venous channels around the rectum and uterus that were confirmed by computed tomographic scan (Fig. 2A). Magnetic resonance imaging showed widespread serpiginous varices within the pelvis surrounding the uterus and bladder adnexa extending toward the rectum (Fig. 2B). The wall was thick with prominent vessels in the rectum and perianal area.FIG. 2.Figure 2: ContinuedComment: Venous malformations of the rectum are uncommon lesions that present complex management problems (1). Most lesions become symptomatic with rectal bleeding in infancy or childhood. Many of these patients are treated for colitis for years before the correct diagnosis is made. The usual symptom is painless bleeding per rectum and occasional tenesmus or abdominal pain. These patients may have chronic constipation and rectal prolapse. Occasionally, venous malformations affect the sigmoid and descending colon in addition to the rectum. Venous malformations of the rectum have been described as “diffuse cavernous hemangiomas.” Mulliken et al. divided vascular lesions into pediatric hemangiomas and vascular malformations. Unlike hemangiomas, vascular malformations do not proliferate in the first few months of life, and growth is commensurate with that of the child. They may contain a combination of venous, lymphatic, capillary, or arterial components. This patient had extensive low-flow venous malformations. Several treatment options have been tried in such patients, including sclerotherapy, surgery, and radiation therapy. These are associated with significant morbidity and mortality and should be reserved for patients unable to maintain hemoglobin above 10 g/dl when treated with iron therapy and stool softeners.