Case 1: Diagnosing difficult deglutition

A 16-year-old girl with a long-standing history of dysphagia was referred to the gastroenterology service by her family paediatrician. The difficulty in swallowing had been present intermittently since early childhood and had recently become more prominent, making her seek medical attention. The patient had noticed difficulty swallowing certain types of solid foods, notably meat and bread. She had a feeling of food getting stuck in the throat and of discomfort in that area. On a few occasions, she had vomited undigested food. There was no problem swallowing liquids. There was no odynophagia, heartburn, regurgitation, drooling, abdominal pain, chronic cough, headaches or weight loss. She never presented with a bolus obstruction. Her symptoms were nonprogressive. A system inquiry was negative. She was a well-adjusted adolescent, performing very well in school and being active in sports and extracurricular activities. Her history was unremarkable with normal growth and development. A family history for dysphagia was negative. A physical examination had revealed a healthy looking girl. Her weight was between the 75th and 90th percentile, and her height was above the 97th percentile. Her physical examination was completely normal. A variety of proton pump inhibitors at adequate doses were tried without any response. A barium study had revealed no abnormality in the swallowing mechanism. The esophagus was unremarkable. The patient was referred to the surgical service of her regional hospital, and an upper gastrointestinal endoscopy was performed. The esophagus was reported to be completely normal. Mild, nonspecific erythema was noted in the gastric antrum. However, biopsies taken from the antrum did not reveal any Helicobacter pylori infection. An assessment by an otolaryngologist had revealed a normal larynx and hypopharynx with good vocal cord mobility and no mass effect. Given all the negative investigations, the impression was that the patient may have psychogenic dysphagia. When seen at the gastroenterology clinic, the patient's symptoms were unchanged and her physical examination was normal. A diagnostic test was performed. The term dysphagia is derived from the Greek roots “dys” (with difficulty) and “phagia” (to eat). It is defined as the subjective sensation of having difficulty swallowing and can occur from any process that produces difficulty with active transport of food and liquid from mouth to stomach. In the paediatric population, dysphagia is an uncommon but an alarming symptom. The differential diagnosis of dysphagia in children is wide, including congenital, infectious, inflammatory, systemic, traumatic and neoplastic causes. Dysphagia can be broadly classified into two types, based on its origin: pharyngeal or esophageal. The causes of pharyngeal dysphagia are mainly neuromuscular in nature, causing difficulty in swallowing both liquids and solids – patients typically experience more difficulty swallowing liquids. Esophageal dysphagia may be due to problems in the lumen (tumours, stricture, web, ring, foreign body, etc), wall (esophagitis, connective tissue disorders, achalasia, etc) or extramural (mediastinal mass). This type of dysphagia typically leads to difficulty swallowing solid foods. Occasionally, no etiology is found for dysphagia. Most causes of dysphagia are apparent on the history and physical examination of the patient. A barium swallow is the investigation of choice in dysphagia and would help to exclude anatomical problems. An upper gastrointestinal endoscopy was performed to obtain esophageal biopsies. The lower end of the esophagus appeared mildly hyperemic without any ulcerations, plaques, furrowing, web or stricture. The stomach and duodenum were normal. Biopsies from the lower esophagus revealed eosinophilic infiltration of the mucosa with more than 20 eosinophils per high-power field. There was no elongation of papillae or basal cell hyperplasia. A diagnosis of eosinophilic esophagitis (EE) was established. The patient was started on oral fluticasone. EE is a relatively new disorder that is increasingly being recognized in children and adults. There is isolated eosinophilic inflammation of the esophagus, leading to a variety of symptoms including dysphagia, food impaction, feeding intolerance, abdominal pain, weight loss, nausea and vomiting. EE is characterized by clinical symptoms, eosinophilic infiltration of the esophagus (more than 15 eosinophils per high-power field on microscopy) and exclusion of other disorders associated with similar clinical, histological or endoscopic features, especially gastroesophageal reflux disease (GERD). In a large case series (1) of 620 children with EE, 68% were younger than six years of age. Reflux symptoms as well as feeding issues or failure to thrive were the most common presenting symptoms for EE in this study. Some patients with EE have atopic features with asthma and/or eczema. In severe cases, esophageal strictures may develop. The clinical features of EE commonly mimic those of GERD. A diagnosis of EE should only be entertained in patients with GERD who have shown no response to adequate doses of proton pump inhibitors and have a normal pH probe monitoring study. Food allergies are considered to play a role in the pathogenesis of EE. However, it is not always possible to identify the offending allergen(s). Typical allergy tests are not helpful for diagnosis of EE because the allergic reaction involved is non-immunoglobulin E-mediated. The most commonly involved foods include milk, soy, wheat, nuts, eggs and shellfish. The treatment of EE is challenging and includes dietary approaches based on eliminating exposure to food allergens and medications including cromolyn sodium, leukotriene inhibitors, and topical or systemic corticosteroids. Dysphagia in an otherwise healthy child is very suggestive of EE. The diagnosis of EE requires biopsies taken at multiple levels of the esophagus. An esophagoscopy should be performed when no obvious cause for dysphagia is found on clinical examination and barium swallow is normal. In the past, these types of patients were believed to have psychogenic dysphagia. Gastroenterologists routinely perform biopsies from various parts of the esophagus to examine for the presence of EE. However, in health care institutions where paediatric gastroenterologists are not available, the endoscopy may be performed by general surgery or otolarygology service. In some cases of EE, the esophagus may grossly appear normal on endoscopy and hence biopsies may not be taken. It is important that the endoscopist in such situations be advised that esophageal biopsies should be performed when the patient is being investigated for EE. EE should be a diagnostic consideration in any patient who presents with dysphagia with or without other symptoms. More commonly, these patients have only dysphagia and no other symptoms. Esophageal biopsies to evaluate for EE should also be considered in all children who have failed adequate acid inhibition therapy for GERD. Esophageal biopsies must be performed if a patient with dysphagia or GERD is having an upper gastrointestinal endoscopy, irrespective of the gross appearance of the esophagus. Multiple biopsies should be obtained at different levels of the esophagus. A diagnosis of psychogenic dysphagia/globus hystericus should not be made without an endoscopic and histological evaluation of the esophagus for EE.

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