Achalasia microcephaly syndrome in a patient with consanguineous parents: support for a.m. being a distinct autosomal recessive condition

Abstract

A 4 9/12‐year‐old boy with achalasia microcephaly syndrome (AMS), born to a consanguineous couple, is reported. Comparative analysis of this case and the patients previously described in a Mexican family supports the notion that the syndrome is a distinct autosomal recessive condition. It is interesting that the area of origin and ethnicity of both the present and the previously reported cases is northwest Mexico.

Achalasia: will genetic studies provide insights?

“…Although there was no known consanguinity in the first case (Kreuz et al 1999), the parents of the second case were second-degree cousins (Hernandez et al 1989). Interestingly, the latter family came from the same area of northwest Mexico as the family described in the initial report (see above).…”

Childhood esophageal achalasia: Case report from Afghanistan with literature review

“…A number of studies failed to identify familial clustering of achalasia, but most of the achalasia cases may be as a result of consanguinity and may occur in siblings, suggesting autosomal recessive inheritance. Some authors argue about the genetic predisposition to achalasia [12] , [13] .…”