Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content +++ Key Features +++ Essentials of Diagnosis ++ Emesis Dysphagia Weight loss Chronic cough Dilated esophagus with a tapered "beak" at the gastroesophageal (GE) junction +++ General Considerations ++ Rare in pediatrics Incidence is 0.11 per 100,000 Most commonly in children who are older than 5 years Cases during infancy have been reported, but overall < 5% of cases occur in patients younger than 15 years Although no genetic or pathophysiologic basis has been identified, cases have been reported in pediatric autism patients +++ Clinical Findings +++ Symptoms and Signs ++ Emesis (84.6%) Dysphagia (69.2%) Weight loss (46.0%) Chronic cough (46.1%) Patients may eat slowly and often require large amounts of fluid when ingesting solid food Familial cases occur in Allgrove syndrome (alacrima, adrenal insufficiency, and achalasia, associated with a defect in the AAAS gene on 12q13, encoding the ALADIN protein) Familial dysautonomia +++ Differential Diagnosis ++ Congenital or peptic stricture, webs, and masses of the esophagus may mimic achalasia Eosinophilic esophagitis commonly presents with symptoms of dysphagia and food impaction, similar to achalasia Cricopharyngeal achalasia or spasm is a rare cause of dysphagia in children, but it shares some clinical features of primary achalasia of the lower esophageal sphincter (LES) Intestinal pseudoobstruction, multiple endocrine neoplasia type 2b, systemic amyloidosis, and postvagotomy syndrome cause esophageal dysmotility similar to achalasia In Chagas disease, caused by Trypanosoma cruzi, nNOS and ganglion cells are diminished or absent in the muscular layers of the LES causing an acquired achalasia +++ Diagnosis ++ Barium esophagram shows a dilated esophagus with a tapered "beak" at the GE junction Fluoroscopy shows irregular tertiary contractions of the esophageal wall, indicative of disordered esophageal peristalsis Achalasia has also been identified incidentally in patients undergoing GE scintigraphy Esophageal manometry may show High resting pressure of the LES Failure of sphincter relaxation after swallowing Abnormal esophageal peristalsis +++ Treatment ++ Endoscopic injection of botulinum toxin Paralyzes the LES Temporarily relieves obstruction Has relapse rates > 50% Pneumatic dilation of the LES produces temporary relief of obstruction that may last weeks to years Surgical (Heller myotomy) Advocated as best initial treatment because of concerns that dilation may increase inflammation between the esophageal mucosal and muscular layers Recurrence risk of obstructive symptoms has been reported to be as high as 27%, with perforation rates up to 9.6% +++ Outcome +++ Prognosis ++ Postoperative GERD is common Pneumatic dilation may achieve better outcomes than Heller myotomy in children over age 6 years Isolated case reports of peroral endoscopic myotomy (POEM) show No complications Complete symptom resolution at 12-month follow-up +++ References + +Betalli P et al: Autism and esophageal achalasia in childhood: a ... Your Access profile is currently affiliated with [InstitutionA] and is in the process of switching affiliations to [InstitutionB]. Please select how you would like to proceed. Keep the current affiliation with [InstitutionA] and continue with the Access profile sign in process Switch affiliation to [InstitutionB] and continue with the Access profile sign in process Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Error: Incorrect UserName or Password Username Error: Please enter User Name Password Error: Please enter Password Sign in Forgot Password? Forgot Username? Download the Access App: iOS | Android Sign in via OpenAthens Sign in via Shibboleth You already have access! Please proceed to your institution's subscription. Create a free profile for additional features.