Pediatric Zollinger-Ellison Syndrome Clinical Presentation

  • Author: Stefano Guandalini, MD; Chief Editor: Carmen Cuffari, MD   more...
 
Updated: Nov 4, 2011
 

History and Physical Examination

The typical presentation of Zollinger-Ellison syndrome (ZES) is severe abdominal pain, with or without diarrhea. Most children present with complications of peptic ulcer disease (PUD), such as bleeding from an ulcer or duodenal perforation.

Abdominal pain

The abdominal pain is due to peptic ulcers, which can be found in the upper gastrointestinal (GI) tract in 90-95% of patients. These ulcers are often multiple (see the following image) or in unusual locations. In 70% of patients, single or multiple ulcers are found in the first part of the duodenum. However, ulcers in the second or third part of the duodenum or in the jejunum are highly suggestive of Zollinger-Ellison syndrome. Other characteristics of Zollinger-Ellison syndrome ulcers include a size larger than 2 cm and a refractory behavior to conventional therapy.

Diarrhea

The second most common symptom of Zollinger-Ellison syndrome ulcers is diarrhea, which is seen in 50-65% of patients. Diarrhea may be the only symptom; however, it can also precede or follow the ulcer formation. The diarrhea is due to mucosal damage by activated pepsinogens that result from excessive acid secretion. Other mechanisms of diarrhea in Zollinger-Ellison syndrome include inhibition of sodium and water absorption, bile acid insolubility, and inactivation of pancreatic enzymes, leading to both malabsorptive (steatorrhea) and secretory states.[10]

Other symptoms

Zollinger-Ellison syndrome may also manifest as symptoms of gastroesophageal reflux and, in severe cases, has been associated with esophageal stenosis or Barrett mucosa in adults.

Because Zollinger-Ellison may present with many vague, common GI symptoms, the correct diagnosis is often delayed by 4-6 years.[11, 12]

Physical findings

The physical examination findings in affected patients are often normal. These children may have abdominal tenderness and, in the case of perforation, they may have peritoneal signs. Patients who experience anemia due to bleeding ulcers may appear pale and may have tachycardia and/or fatigue.

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Staging

Staging Zollinger-Ellison syndrome (ZES) is based on tumor size (>2-3 cm) and metastases to the lymph nodes, liver, or both. Metastases to the liver are associated with poor prognosis and have been reported to occur in roughly 60% of patients with pancreatic gastrinoma versus less than 10% in patients with duodenal gastrinoma.[13]

Tumor size does not relate to serum gastrin levels or the severity of symptoms.

Ectopic Cushing syndrome, tumor flow cytometry features, and overexpression of certain growth factors such as human epidermal growth factor receptor 2 (HER2/neu) are associated with aggressive gastrinomas and poor prognosis.

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Contributor Information and Disclosures
Author

Stefano Guandalini, MD  Director, Celiac Disease Center, Chief, Section of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Chicago Medical Center; Professor, Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, University of Chicago Division of the Biological Sciences, The Pritzker School of Medicine

Stefano Guandalini, MD is a member of the following medical societies: American Gastroenterological Association, European Society for Paediatric Gastroenterology, Hepatology & Nutrition, and North American Society for Pediatric Gastroenterology and Nutrition

Disclosure: Nothing to disclose.

Coauthor(s)

Tiffany J Patton, MD  Fellow, Division of Pediatric Gastroenterology, Comer Children's Hospital, University of Chicago Medical Center

Tiffany J Patton, MD is a member of the following medical societies: American Academy of Pediatrics, American Gastroenterological Association, and North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Nothing to disclose.

Klaus Radebold, MD, PhD  Research Associate, Department of Surgery, Yale University School of Medicine

Klaus Radebold, MD, PhD is a member of the following medical societies: American Gastroenterological Association and New York Academy of Sciences

Disclosure: Nothing to disclose.

Chief Editor

Carmen Cuffari, MD  Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Additional Contributors

Jayant Deodhar, MD Associate Professor in Pediatrics, BJ Medical College, India; Honorary Consultant, Departments of Pediatrics and Neonatology, King Edward Memorial Hospital, India

Disclosure: Nothing to disclose.

Stacy A Kahn, MD Postdoctoral Fellow and Instructor, Department of Pediatrics, Section of Pediatric Gastroenterology, Hepatology and Nutrition, University of Chicago Division of the Biological Sciences, The Pritzker School of Medicine

Stacy A Kahn, MD is a member of the following medical societies: American Academy of Pediatrics, American Gastroenterological Assocation, and North American Society for Pediatric Gastroenterology and Nutrition

Disclosure: Nothing to disclose.

David A Piccoli, MD Chief of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia; Professor, University of Pennsylvania School of Medicine

David A Piccoli, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American Gastroenterological Association, and North American Society for Pediatric Gastroenterology and Nutrition

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

References

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Somatostatin receptor scintigraphy in a young patient with Zollinger-Ellison syndrome. Besides physiologic uptake in the kidneys and the spleen, 2 pathologic hot spots are present, one in the area of the duodenum and another next to the pancreas.
Somatostatin receptor scintigraphy in a young patient with Zollinger-Ellison syndrome whose gastrinomas were resected. The LEFT (big) tumor was a periduodenal lymph node gastrinoma; the RIGHT tumor was a pancreatic gastrinoma. Despite negative findings on the scan, the patient remained hypergastrinemic, probably because of microscopic disease that escaped diagnostic imaging and surgical exploration.
 
 
 
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