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Familial infantile oesophageal achalasia
T K Kaar1, R Waldron, M S Ashraf
1Department of Paediatrics, Regional Hospital, Wilton, Cork, Republic of Ireland.
Archives of Disease in Childhood
|November 1, 1991
Insights
Familial oesophageal achalasia is rare in children. This report details two infant siblings with the condition, suggesting a possible autosomal recessive inheritance pattern due to parental consanguinity.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Rare Diseases
Background:
- Oesophageal achalasia is a rare esophageal motility disorder.
- Familial occurrence of oesophageal achalasia in pediatric populations is exceptionally uncommon.
- Understanding the genetic basis of rare diseases is crucial for diagnosis and management.
Observation:
- Two male siblings presented with infantile oesophageal achalasia.
- The patients exhibited symptoms and required management for this rare condition during infancy.
- A significant degree of consanguinity was noted between the parents of the affected siblings.
Findings:
- The clinical presentation and management of two infant male siblings with oesophageal achalasia are described.
- The observed parental consanguinity strongly suggests a potential autosomal recessive mode of inheritance for this familial achalasia case.
- This case highlights a rare genetic etiology for oesophageal achalasia in children.
Implications:
- This case provides valuable insights into the potential genetic underpinnings of pediatric oesophageal achalasia.
- Identifying familial patterns can aid in earlier diagnosis and genetic counseling for affected families.
- Further research into the genetics of oesophageal achalasia may reveal novel therapeutic targets.
Abstract:
Oesophageal achalasia is uncommon in children and in its familial form it is a rarity. The presentation and management of two male siblings who presented with oesophageal achalasia as infants are reported. A high degree of consanguinity in the parents of the children existed, suggesting autosomal recessive transmission.