Familial Achalasia, a Case Report

Abstract

Background: Although achalasia is a relatively rare disease in pediatric age group, it must be considered for differential diagnosis of esophageal disorders in children with positive family history even in the absence of typical clinical manifestations.

Case Presentation: A 5-month old boy was hospitalized for cough and mild respiratory distress. Because of positive history of achalasia in his mother, achalasia was detected in esophgagography. Pneumatic dilation through endoscopy was successful. A 12-month follow-up revealed no problem.

Conclusion: Achalasia must be considered for differential diagnosis in children with positive family history of achalasia even in the absence of typical clinical manifestations. An autosomal recessive mode of inheritance is probable. We suggest further researches and genetic studies to establish the pattern of inheritance.