Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: a twelve-year single center experience.

Purpose: Although achalasia is a rare disorder in children, its symptom may mimic common childhood diseases. This study aimed to assess the diagnosis and management of achalasia in children and adolescents in a Brazilian single center during a 12-year period.

Methods: Patients with achalasia were identified from a database built during the period of January 2000-January 2012 from a Pediatric Gastroenterology reference center. Information regarding demographic data, clinical symptoms, diagnosis, treatment, and long-term follow-up were described.

Results: Thirteen patients were studied; median age was 7 (1-14) years. Most frequent symptoms were vomiting (84.6 %) and dysphagia (69.2 %). Weight loss occurred in 46.0 % of patients and chronic cough in 46.1 %. Associated disorders were Down's syndrome, Allgrove syndrome, and congenital central hypoventilation syndrome. Achalasia was misdiagnosed with anorexia nervosa. Six patients were previously treated as having gastroesophageal reflux disease and asthma. Five patients had pneumatic balloon dilation as initial therapy whereas five had esophageal myotomy. Finally, 11 patients had surgical therapy with a favorable follow-up.

Conclusion: Achalasia symptoms may mimic common diseases in children, and therefore, may delay the diagnosis. This study emphasizes the importance of the clinical symptoms for the diagnosis of achalasia, mainly in those cases with associated disorders.