Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients ... Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients typically present with dysphagia, regurgitation, retrosternal pain, and substantial weight loss (Farrokhi and Vaezi, 2007; summary by Gockel et al., 2010).
Thibert et al. (1965) described 2 families, each with 2 affected sibs under 16 years of age.
Cloud et al. (1966) observed the disorder in 4 Apache Indian sibs less than 6 years old. Westley et ... Thibert et al. (1965) described 2 families, each with 2 affected sibs under 16 years of age. Cloud et al. (1966) observed the disorder in 4 Apache Indian sibs less than 6 years old. Westley et al. (1975) reported 6 cases of achalasia, with symptoms beginning in infancy, in 3 sibships of an Apache Indian kindred. Koivukangas et al. (1973) found Sjogren syndrome and achalasia in 2 sisters. (The Sjogren syndrome present in this family consisted of the triad of keratoconjunctivitis sicca, xerostomia, and rheumatoid arthritis or other connective tissue disease.) Vaughan and Williams (1973) described 2 brothers, aged 2 and 8 years, with achalasia. Both presented with pulmonary complications caused by their achalasia. These brothers may have had the syndrome of glucocorticoid deficiency and achalasia (231550) because in the 8-year-old 'the clinical picture was obscured by the fact that the patient was hyperpigmented and had low plasma steroids.' In any case of achalasia in a child, especially if the disorder is familial (and especially if surgery is contemplated), adrenal insufficiency should be considered.