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Gastric Adenocarcinoma Mimicking Achalasia in a 15-Year-Old Patient: A Case Report and Review of the Literature

Aichbichler, Berendt W.; Eherer, Andreas J.; Petritsch, Wolfgang; Hinterleitner, Thomas A.; Krejs, Guenter J.

Journal of Pediatric Gastroenterology and Nutrition: January 2001 - Volume 32 - Issue 1 - p 103-106
Case Reports

Department of Internal Medicine, Karl Franzens University, Graz, Austria

Received April 10, 2000; accepted October 12, 2000.

Address correspondence and reprint requests to Dr. Berendt W. Aichbichler, Division of Gastroenterology and Hepatology, Department of Internal Medicine, Karl Franzens University, Graz, Auenbruggerplatz 15, A-8036 Graz, Austria.

The term achalasia means failure to relax and describes the main feature of this disorder, poor relaxation of the lower esophageal sphincter (LES). The cause of this disease remains unknown. Achalasia has an incidence of approximately 1 per 100,000 population per year (1), with onset of symptoms at any age (2). Achalasia before or during adolescence (age range, 0–17 years) is reported in approximately 5% of all cases (3). Familial cases are known and are sometimes associated with adrenal insufficiency and alacrima (Allgrove syndrome). Patients describe painless dysphagia with solids and liquids, and weight loss is common. If weight loss exceeds 10% of body weight, malignancy should be suspected (4). Approximately 30% to 50% of patients report chest pain (5) and up to 90% regurgitate undigested food. The most important disease that can mimic primary achalasia is adenocarcinoma of the cardia. The mean age of patients with adenocarcinoma of the cardia is however in the middle of the seventh decade, and occurrence of this disease before 20 years of age is extremely rare. The incidence of all malignant tumors in children is estimated at approximately 10 per 100,000 (6). Gastrointestinal malignancies represent less than 5% of all these neoplasms. Only 0.05% of gastrointestinal malignancies in children are gastric carcinomas (7–9). That means that gastric carcinomas occur at a rate of approximately 1 per 40 million children per year.

This is the case of a 15-year-old boy with symptoms suggestive of primary achalasia caused by adenocarcinoma of the cardia. Several authors have described patients with malignancies of the cardia mimicking achalasia (4,10–16), but to the best of our knowledge this has never been described in children or adolescents.

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We report a 15-year-old boy who was well until 2 months before admission, when he began to have dysphagia for liquids and solids without any chest pain. He reported regurgitation of undigested food, without nausea or vomiting and a weight loss of 3 kg within the prior 2 months. He neither smoked nor drank alcohol. The family history was completely negative for achalasia and gastrointestinal cancer. One grandmother had had carcinoma of the uterus at the age of 57. A barium study performed in another hospital showed a megaesophagus typical in achalasia (Fig. 1).

FIG. 1.

FIG. 1.

The patient was admitted to our university medical center for further evaluation and treatment. Physical examination was unremarkable. A test for occult blood in the gastrointestinal tract was negative. Body weight was 52 kg and height was 180 cm. Blood chemistry, including tumor markers CA72-3, CEA, and CA19-9 was normal; only C-reactive protein was mildly elevated. Esophageal manometry (Fig. 2) showed no relaxation of the LES during swallowing and mirror imaging of the corpus. Intraesophageal resting pressure was higher than intragastric resting pressure. Measured contractions of the esophageal body had a low amplitude with simultaneous onset. Sequentially propagated waves traversing the distal esophagus were absent. Esophageal manometry was consistent with achalasia. Upper endoscopy showed a dilated esophagus full of fluid. The gastroesophageal junction was narrow. When the gastroesophageal junction was passed by endoscope (GIF-1T.100, Olympus, Tokyo, Japan) with gentle pressure, it appeared to be expandable, but the endoscope did not “pop” readily into the stomach as is typically expected in patients with achalasia. The mucosa of the cardia region was unremarkable (Fig. 3), as was the view of the cardia after retroflexion of the instrument. Upper endoscopy of the stomach and duodenum showed no abnormalities. Multiple biopsy specimens were obtained from the gastroesophageal junction.

FIG. 2.

FIG. 2.

FIG. 3.

FIG. 3.

Botulinum toxin (300 endotoxin units [EU]) was injected circumferentially in the same session without relief of symptoms within the following days. Histology revealed an invasive, poorly differentiated adenocarcinoma of the cardia. Helicobacter pylori was absent. Endoscopic ultrasound (EUS) revealed a stage IV tumor reaching the aorta with suspected infiltration of the outer layer of the aortic wall (Fig. 4). Pathologic lymph nodes with a diameter up to 8 mm were found along the esophagus. Computed tomography demonstrated an advanced mass at the gastroesophageal junction with enlarged lymph nodes but no signs of distant metastasis. The patient was referred for chemotherapy and responded well, allowing surgical resection 5 months later.

FIG. 4.

FIG. 4.

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We describe an adolescent male with all clinical features of primary achalasia. The symptoms and findings in a barium study, manometry, and upper endoscopy were consistent with this diagnosis. In patients with achalasia the endoscopist can expect the instrument to pop into the stomach when the LES is passed, a phenomenon that was not present in our patient. Apparently normal mucosa at the gastroesophageal junction does not rule out the possibility of a tumor causing secondary achalasia, because a reasonable number of tumors are infiltrative and therefore not detectable by endoscopy (4,17). It seems to be justified to obtain biopsy specimens in certain patients, especially in those with negative family history for achalasia, because the bleeding risk of 0.01% is minimal (18).

Because all the tests were consistent with the diagnosis of primary achalasia, botulinum toxin (300 EU) was injected circumferentially into the gastroesophageal junction in the same session without relief of symptoms within the following days. In patients with primary achalasia improvement of symptoms can be expected in 70% to 90% within 1 to 2 weeks after injection of botulinum toxin (19,20). Improvement can be delayed up to 2 months (21). In one study, including 60 patients with primary achalasia, 53 subjects (88%) responded to therapy with botulinum toxin. Twenty of these 53 responders improved by day 1, 18 by week 1, and 4 by week 2. In 11 patients (21%), however, it took up to 2 months for symptoms to improve (21). In patients with secondary achalasia only 20% responded to botulinum toxin therapy. Time interval between injection of botulinum toxin and improvement of symptoms in patients with secondary achalasia was 1 day to 1 month (21,22).

It is known that esophageal manometry cannot distinguish between primary achalasia and secondary achalasia because of adenocarcinoma of the gastroesophageal junction (4,13). In one retrospective study Tucker et al. (4) demonstrated, in seven patients with secondary achalasia caused by malignancies, manometric features (aperistalsis, poor LES relaxation, and elevated sphincter pressure) identical with those in patients with primary achalasia. In another retrospective study, the investigators could not discriminate 6 patients with secondary achalasia due to carcinoma from 161 patients with primary achalasia (13). In this study, the two major criteria for the diagnosis of achalasia were aperistalsis of the thoracic esophagus and failure of the LES to relax completely with deglutition. Although mean LES pressure was somewhat lower in patients with primary achalasia compared with patients with secondary achalasia, manometry could not distinguish between the two forms of achalasia. Manometry can confirm the diagnosis of primary achalasia but contributes less in advanced cases with classic radiographic findings and endoscopic appearance.

The incidence of gastric adenocarcinoma is approximately 8 new cases per 100,000 population per year in the United States (23) and approximately 14 per 100,000 in Austria (24). There is a worldwide decline in prevalence and death rate. The disease is uncommon in people under 50 years of age. Mean age at diagnosis is 63 years in the United States and 69 years in Austria. Gastric adenocarcinoma is extremely rare in adolescents (approximately 1 per 40 million per year). It is noteworthy that this extremely low incidence includes the small number of carcinomas that are confined to the region of the cardia.

The literature reports very few cases of adenocarcinoma of the stomach in children and adolescents (6,25–36). Location of the carcinoma can be the gastroesophageal junction, the cardia, antrum, pylorus, or the greater or lesser curve (28). Symptoms of the disease are variable in children. According to the location and extent of the tumor, the main symptoms described included abdominal pain, loss of appetite, weight loss, vomiting, gastroesophageal reflux, heartburn, dysphagia, diarrhea, anorexia, fatigue, weakness, lethargy, anemia, and a palpable abdominal mass. In only one of these patients was dysphagia described as the main symptom (33). In no patient did adenocarcinoma mimic achalasia.

It is not known whether risk factors specific for gastric adenocarcinoma in adults apply to children and adolescents. They include familial adenomatous polyposis, high-grade dysplasia, Barrett's esophagus, intestinal metaplasia, chronic atrophic gastritis, H. pylori infection and hereditary nonpolyposis colorectal cancer (Lynch grade II). Our patient had none of these risk factors. His family history was unremarkable. In addition, we could rule out H. pylori infection.

Many epidemiologic data suggest that the socioeconomic status and other factors influence the risk of development of gastric adenocarcinoma. These studies show that the risk for gastric cancer is influenced by use of alcohol or nicotine, limited access to fresh fruits or vegetables, or low socioeconomic status (37–41). None of these risk factors applied to our patient.

Another risk factor is heartburn or gastroesophageal regurgitation. A recent study showed that the risk of development of esophageal adenocarcinoma is almost eight times higher among patients who have these symptoms (42). In the same study, the risk of development of adenocarcinoma of the gastric cardia was shown to be two times higher in patients with these symptoms. However, our patient had none of these symptoms.

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Although adenocarcinoma of the cardia is extremely rare in adolescent patients, the endoscopist should be alert to this disease in patients of any age with dysphagia, even if symptoms, and results of a barium study, upper endoscopy, and esophageal manometry are suggestive of primary achalasia, especially if family history is negative for achalasia. In addition, secondary achalasia should be suspected in patients who do not respond to therapy with botulinum toxin within 2 months.

Because none of the mentioned tests can distinguish between primary achalasia and secondary forms due to carcinoma of the cardia, biopsy specimens should be obtained. It appears that, although there is a minimal risk for complications, a diagnostic procedure such as biopsy would be appropriate when the information obtained could be essential.

In some cases EUS can be an additional diagnostic tool, because lesions of the submucosa and the surrounding area can be identified by EUS.

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