Achalasia in siblings. Clinical and genetic aspects

Achalasia is rare in children; less than 2% of all patients with achalasia are less than 6 years old. Familial achalasia is extraordinarily rare, for an exhaustive search of the world literature yielded only 31 cases. Two additional cases are reported here. Based on an analysis of the reported cases in the literature coupled with our two cases, we have observed that familial achalasia is likely transmitted as an autosomal recessive trait. We recommend that all siblings of children with confirmed achalasia should either be studied by contrast roentgenography or be monitored closely for clinical signs of achalasia, especially if they are products of consanguineous parents.