Hematochezia in a child is a common sign that precipitates a visit to a gastroenterologist. Gastric heterotopia of the rectum is an uncommon diagnosis but should be considered in a patient with chronic painless rectal bleeding. The true prevalence and risk for malignant transformation is unknown, therefore, removal of the lesion is recommended. We report a case of gastric heterotopia of the rectum in a 5-year-old that was removed with endoscopic ablation and we review the literature.
A 5-year-old female presented with a 2.5-year history of episodic painless rectal bleeding. The episodes of bleeding occurred intermittently without any clear pattern. The bleeding was described as bright red blood streaked on the stool, on the toilet paper, and blood in the toilet bowl with occasional mucous. She had occasional abdominal pain not associated with defecation. The pain was not more frequent or more severe during episodes of hematochezia. The family denied any history of painful defecation, constipation, diarrhea, excessive flatus, or any other gastrointestinal symptoms. She had no history of unexplained fever, myalgias, arthralgias, skin rash, or mouth ulcers. Her past medical history was unremarkable. Her growth and development were normal.
There was no family history of any bleeding disorders, recurrent epistaxis, gastrointestinal polyps or cancer, and only a remote family history of ulcerative colitis in a maternal cousin.
On physical examination, the little girl appeared healthy. Her height was 115 cm (75th percentile), and her weight was 20.3 kg (75th percentile). Her physical examination finding was entirely normal. She had no telangiectasias or other skin lesions. Her abdomen was soft and nontender without organomegaly. On rectal examination, she had no anal fissures or skin tags. Her rectal vault was a normal size.
Flexible colonoscopy revealed a sessile polypoid lesion with raised edges and slight central depression approximately 4 cm in diameter located 5 cm from the anal verge (Fig. 1). The surrounding tissue appeared irritated and erythematous. The remainder of the colon appeared normal. Brushings and biopsies were performed with minimal bleeding, although the tissue was friable. The lesion was tattooed with India ink for future identification. Microscopic evaluation of the lesion revealed gastric fundic-type mucosa with a small amount of colonic glandular epithelium and no evidence of neoplasia (Fig. 2).
The patient was treated with omeprazole 20 mg twice daily. Within several days of commencing therapy, her rectal bleeding ceased. She took omeprazole daily for 4 months and experienced no rectal bleeding nor did she have any other symptoms of illness. The bleeding recurred within several days of stopping the medication, and then ceased again when the medication was restarted. Given her persistent symptoms, repeat colonoscopy and endoscopic ablation were scheduled.
Repeat colonoscopy revealed mild erythema surrounding a relatively unchanged sessile polypoid lesion. Several satellite erythematous lesions were identified. The borders of the lesion were first marked by short bursts of argon plasma coagulation (APC, Erbe USA Inc, Marietta, GA) at 20 W/1 L (Fig. 3). The lesion was then raised with directed submucosal injection of saline (Fig. 4). With the dotted line of APC marking as a guide, the lesion was then resected piecemeal by snare. The base and margins were further treated with APC at 20 W/1 L (Fig. 5). The area was again marked with India ink for future identification. Microscopic evaluation of the resected tissue again revealed gastric fundic-type mucosa.
Over the following 4 years, our patient has experienced no rectal bleeding and she has remained entirely asymptomatic off all medications. She has continued to grow and develop normally. Surveillance colonoscopy was performed approximately 1 year after the ablation procedure and was entirely normal (Fig. 6).
Heterotopic gastric mucosa has been identified throughout the gastrointestinal tract including the nasopharynx (1,2), tongue (3), esophagus (3,4), small intestine (5–10), gallbladder (11,12), biliary tract (13,14), colon (15), and rectum. The natural history of gastric heterotopia is unknown. Serious complications because of heterotopic gastric mucosa include major gastrointestinal bleeding (5,7,8), bowel perforation (5,16), megacolon (16), intussusception (9,10), perianal fistula (17), and rectovesical fistula (18). It is unclear whether and how often heterotopic gastric mucosa progresses to malignancy. There have been reports of heterotopic gastric mucosa in the esophagus progressing to malignancy (19,20), and 1 report describes an association between heterotopic gastric mucosa in the colon and a premalignant tubulovillous adenoma (15).
The definitive diagnosis of gastric heterotopia requires visualization and biopsy of the mucosal lesion. Technetium-pertechnetate scanning identifies heterotopic gastric mucosa in >90% of cases (21), but direct visualization and biopsy are needed to confirm the diagnosis. Although lesions containing gastric body, pyloric, antral, chief, salivary, and parietal cells have been described in the literature (22), fundic-type mucosa is identified most often (2).
Three mechanisms for the development of heterotopic gastric mucosa have been proposed. Nest of cells could remain in the esophageal portion of the gut as the stomach descends. Although this mechanism could explain gastric heterotopia of the esophagus (23), it cannot explain the presence of heterotopic gastric mucosa in other portions of the intestinal tract. Some authors have proposed that heterotopic gastric mucosa is the result of an abnormal regenerative process following destruction of normal intestinal mucosa (24). This hypothesis is not supported by any descriptions of gastric heterotopia following destruction of gastrointestinal mucosa following gastroenteritis or other inflammatory conditions. The third and most plausible hypothesis is that heterotopic gastric mucosa is the result of an error of differentiation. Pluripotent endoderm stem cells have the capability of differentiating into all types of gastrointestinal epithelium. An error in differentiation could result in gastric mucosa being present anywhere throughout the gastrointestinal tract (25).
Heterotopic gastric mucosa in the rectum is a rare disorder with <50 reported cases (Table 1). It was first reported by Ewell and Jackson in 1939 (34). As was the case with our patient, most affected patients present with painless rectal bleeding. Less common presenting symptoms include abdominal pain, tenesmus, rectal burning, pruritis ani, diarrhea, and colic. The average age of presentation is approximately 20 years (47).
The risk of malignant transformation of heterotopic gastric mucosa is unknown. Although there have been no case reports that specifically describe malignant transformation of heterotopic gastric mucosa of the rectum, there have been 6 cases of gastric heterotopia of the esophagus that presented as adenocarcinoma. All of these cases were in older adults and the duration of gastric heterotopia in the esophagus was unknown (20). However, the number of cases of gastric heterotopic that undergo malignant transformation may be underestimated because of tumor growth obliterating a small ectopic gastric mucosa focus.
In a number of case reports, patients with heterotopic gastric mucosa have been treated with H2 receptor blockers or proton pump inhibitors. As was true in our case, these therapies may ameliorate or eliminate symptoms, but they do not cause involution of the mucosal abnormalities. Long-term usage of H2 receptor antagonists has been reported in 1 case of widespread colonic involvement; however, follow-up in that case was limited to 5 months, and repeat endoscopy revealed a persistent mucosal defect (24). In the majority of published case reports, the heterotopic gastric mucosa has been removed surgically or endoscopically. The endoscopic technique used for removing this lesion was based in part on techniques first used in gastric mucosal resection, particularly the use of marking the margin before saline lift (51). In our patient, chronic use of a proton pump inhibitor produced prompt and complete resolution of her rectal bleeding; however, when the medication was discontinued, her bleeding quickly recurred. Moreover, macroscopically the lesion was unchanged in size after 4 months of acid inhibition. Given concerns for possible malignant transformation over the long term, endoscopic ablation of the lesion was performed.
Argon plasma coagulation can be used at higher wattage (40–60 W) in the adult rectum because of the surrounding fat pad and used at lower wattage (20 W) in the right colon and rectum. There are no data regarding the use of APC in children. In our patient, we performed APC with low wattage (20 W) in the rectum without complication. In a young patient, the risks and benefits of APC versus definitive surgical resection should be considered for more proximal lesions in the right and transverse colon.
In conclusion, heterotopic gastric mucosa has been identified throughout the gastrointestinal tract, although it is rarely found in the rectum. Nevertheless, heterotopic gastric mucosa of the rectum should be considered in the differential diagnosis of chronic painless rectal bleeding. Although the true prevalence of gastric heterotopia and the mechanism by which it develops remain unknown, there have been reports of heterotopic gastric mucosa undergoing malignant transformation. For that reason, we suggest endoscopic ablation or surgical excision be performed for gastric heterotopia of the rectum despite complete resolution of symptoms on medical therapy. Our results suggest that modern endoscopic techniques make definitive endoscopic resection feasible.
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