Chest Pain and Weight Loss in a 10-Year-Old Girl

A 10-year-old girl with history of food allergies and eczema presents to the emergency department for acute chest pain and “vomiting.” She was eating earlier when she suddenly developed a severe squeezing and burning pain at the center of her chest. She expelled the food immediately, but the pain persisted, prompting her mother to bring her to the hospital. For the past 8 months, she has been having a similar type of localized and nonreproducible chest pain during meals, but it has always spontaneously resolved within 30 minutes. Along with the pain, she has been throwing up chunks of undigested food daily without gagging, retching, and nausea, during and immediately after meals. Initially, she had difficulty swallowing solids only, but now she struggles with both solids and liquids despite being hungry. She feels like food is stuck in her throat. She has no bloody or bilious emesis. She endorses normal stool patterns with no blood. In total, she has lost 40 pounds since symptom onset.After multiple visits with her pediatrician and local emergency department, she was found to have normal basic laboratory and imaging results including normal complete blood count, basic metabolic panel, amylase, lipase, chest x-ray (CXR), and magnetic resonance imaging noncontrast brain scan. She was subsequently diagnosed as having bulimia nervosa and gastroesophageal reflux disease. She was started on famotidine and takes no other medications. She was provided mental health resources, including a therapist, with no improvement in symptoms.Despite the diagnosis of bulimia nervosa, the patient, mother, and stepfather, together and separately, deny any history of distorted body image, social media triggers, or family history of eating disorders or mood disorders. They also deny any eating disorder behaviors, such as fear of weight gain, laxative use, binge eating, excessive exercise, food rituals, or diet pills. The patient does not report any bullying or major life stressors.On review of systems, she endorses generalized, nonlocalized, dull headaches that are not associated with her chest pain or eating. She has no history of recent illnesses, fevers, travel, chills, difficulty breathing, cough, ingestions, rashes, or joint pain. She has a history of anaphylaxis to fish but denies any exposures.On examination, she has a temperature of 37 °C, heart rate of 82 bpm, respiratory rate of 20 breaths/minute, blood pressure of 86/53 mm Hg, and oxygen saturation of 98% on room air. She has a body mass index of 11.8 kg/m2 (z score = −1.16). Her affect is flat and general appearance is thin. Her respiratory examination shows clear breath sounds bilaterally with no stridor or wheezing. Her abdomen is soft, nondistended, and non-tender. Her hands are free from any scrapes or calluses. She has no lanugo or dermatitis. She also has no dental caries or parotid enlargement. She is alert and appropriately interactive with a normal neurologic examination. The rest of her physical examination is unremarkable. During the interview, the patient is voraciously eating a sandwich, pausing intermittently to regurgitate chunks of food into the basin without apparent distress. She is not retching or heaving.Laboratory evaluation, shown in Table 1, is consistent with hypokalemic, hyperchloremic metabolic acidosis, likely from dehydration and insufficient intake. The 12-lead electrocardiogram shows normal sinus rhythm with a heart rate of 95 bpm. An ultrasound scan of her abdomen with doppler and CXR shows no abnormalities. Gastroenterology is consulted, and the patient is admitted to the hospital for further workup and nutritional optimization. Parenteral nutrition was started to restore the nutritional deficits and prevent further wasting; electrolytes were monitored frequently for refeeding syndrome.The most notable features of this case are regurgitation, dysphagia, and weight loss. Regurgitation is the passive ejection of material from the esophagus, not usually associated with discomfort or nausea. This contrasts with vomiting, which is the forceful expulsion of contents from the stomach. The patient’s presentation is more in line with regurgitation than vomiting, narrowing the differential diagnosis to either an esophageal motility disorder or a structural obstruction, such as eosinophilic esophagitis (atopic history), food impaction, achalasia, rumination syndrome, peptic stricture, or extrinsic esophageal compression from intrathoracic tumor or vascular ring. Most of these disorders can also cause dysphagia, but motility disorders are more likely to result in dysphagia to both solids and liquids.With such profound weight loss, other causes were considered on the differential diagnosis, including celiac disease, inflammatory bowel disease, gastroparesis, hyperthyroidism, and eating disorder, specifically bulimia nervosa. These conditions were ruled out on admission given the normal celiac panel, fecal calprotectin, and thyroid-stimulation hormone results. Although lower on the list, increased intracranial pressure was also considered, but this was ruled out given normal recent brain imaging. After discussion with our adolescent eating disorder specialists and additional input from our gastrointestinal specialists, our medical team concluded that she did not meet the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria for an eating disorder, specifically bulimia nervosa. The Pediatric Columbia Suicide Rating Scale on admission was negative. Our patient was not vomiting out of compulsion but rather regurgitating, and this was repeatedly assessed after monitoring her eating in the hospital.Early in the admission, a barium swallow study showed a dilated thoracic esophagus that tapered at the gastroesophageal junction with no extrinsic mass effect and no passage of contrast through the esophagus (bird’s beak sign) (Figures 1 and 2). The next day, an upper gastrointestinal endoscopy with biopsy and esophageal manometry was performed to exclude esophagitis and malignancy that can mimic achalasia. Endoscopy revealed a narrowed distal esophagus with no strictures, food impaction, or anatomic variation (Figures 3 and 4). Manometry demonstrated high pressure in the lower esophageal sphincter (LES) at rest and a failure to relax after swallowing, confirming the diagnosis. Esophageal biopsy samples found no eosinophilia or other inflammation on histology, ruling out eosinophilic esophagitis or other infections such as cytomegalovirus or candidal esophagitis.Achalasia is a neurodegenerative disorder characterized by degeneration of the myenteric plexus that results in dysfunction of LES smooth muscle and loss of organized peristalsis.1 Achalasia in children is often misdiagnosed, particularly for gastroesophageal reflux disease, leading to a 6- to 10-year delay in treatment.1 The estimated global incidence rate ranges from 0.03 to 1.63 per 100 000 children per year.2 The etiology is unknown, but symptoms are related to nerve damage in the esophagus. The most common presenting signs are regurgitation, dysphagia, weight loss, food bolus obstruction, chest pain, nocturnal cough, and chronic aspiration. The chest pain seen in achalasia is more common in younger individuals.3 Although the exact cause of the pain is unclear, it seems to be an age-dependent phenomenon related to visceral hypersensitivity.3The initial evaluation includes barium swallow, upper gastrointestinal endoscopy, and esophageal manometry (gold standard). Once diagnosed, the severity of disease can be quantified using the Eckardt scale (Table 2). Our patient had an Eckardt score of 10 (range, 0–12).3Achalasia is treated either pharmacologically or mechanically to decrease the pressure in the LES. Endoscopic pneumatic balloon dilation weakens the LES by tearing its smooth muscle fibers.1 Injection of botulinum toxin into the LES inhibits the neurons that increase smooth muscle tone to decrease the muscle tone in the LES.1 Although effective, both methods are temporary and require repeated treatments. Nitrates and calcium channel blockers are the least effective options and must be given before meals to relax the LES. Surgical myotomy, generally considered the standard and definitive treatment for achalasia, is often performed in conjunction with a surgical antireflux procedure to reinforce the cut LES muscle fibers.1Peroral endoscopic myotomy (POEM) is the newest therapy to treat achalasia, originally done only in adults but now also increasingly in children.1,4 POEM involves an endoscopic incision to the esophageal mucosa, creation of a submucosal tunnel, and a cut through the muscularis propria of the LES.1,4 Compared with surgical myotomy, POEM is equally effective but less invasive with shorter recovery.1,4 The most common long-term complication is esophageal reflux, which can be evaluated by repeat upper endoscopy, and serious adverse effects are few.After the diagnosis was confirmed, the patient underwent a POEM (Figures 5–7). She had a barium swallow study done the following day, which did not show any leakage or perforation. She started on liquids for the first meal, then advanced to a soft diet. She was discharged home after 1 day with a soft diet and eventual transition to a regular diet at 2 weeks. She did not need any feeding rehabilitation after evaluation from occupational therapists, and no vitamin supplementation was needed after discharge given normal vitamin D and iron levels during the hospitalization. She was also maintained on a proton pump inhibitor to prevent post-POEM esophageal reflux. At her 4-week follow-up, she had complete resolution of her presenting symptoms with improving weight gain and energy (Eckardt score 0). She was scheduled for a routine surveillance upper endoscopy with pH monitor at 6 months after POEM to assess the efficacy of the procedure and the presence of acid reflux. This found adequately treated achalasia with no signs of acid reflux, and her body mass index improved to 15.6 kg/m2 (z score = –0.83) from a 21-pound weight gain.Achalasia is a rare cause of regurgitation and dysphagia that can also present with chest pain, electrolyte abnormalities, and severe malnutrition.Despite some differences in symptoms, achalasia can be mistaken for an eating disorder, particularly in adolescent girls. A careful medical history is key to making an accurate diagnosis.Regurgitation is differentiated from vomiting by the effortless expulsion of undigested content from the esophagus shortly after eating, not typically associated with retching or nausea.