Achalasia is a rare primary esophageal disorder in the paediatric age group and in most cases is idiopathic. Familial achalasia is rarely described and can also be reported in some syndromes. It is predominantly characterized by vomit and regurgitation, dysphagia to solids and liquids, weight loss and chest pain; symptoms are age-specific. Although achalasia is rare in children, with an incidence of approximately 0.1/ 100,000, its symptoms may mimic common childhood diseases and therefore may delay the diagnosis. Moreover, achalasia may be a part of the AAA (achalasia-alacrimiaadrenal insufficiency) syndrome and its identification may help to quickly diagnose the underlying adrenal insufficiency. The management of achalasia in children is still controversial; laparoscopic Heller’s myotomy seems to be the procedure of choice. This report describes the cases of four children affected by achalasia who did not show the symptom dysphagia which, as a result, led to misdiagnosis and diagnostic delay.
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