Achalasia: Outcome in children

Area of Science:

• Pediatric Gastroenterology
• Rare Diseases
• Surgical Outcomes

Background:

• Oesophageal achalasia is rare in children, sometimes presenting as "triple A" syndrome (adrenal insufficiency, alacrima).
• Current treatments are not curative, necessitating further interventions and ongoing research for improved management.
• The long-term outcomes for syndromic achalasia variants remain largely unknown.

Purpose of the Study:

• To evaluate the effectiveness of various treatments for pediatric achalasia.
• To compare outcomes between children with and without triple A syndrome.
• To assess the long-term impact of achalasia on children's quality of life.

Main Methods:

• Retrospective analysis of 42 pediatric achalasia cases over 30 years.
• Review of patient presentation, treatment interventions, and outcomes.
• Long-term quality of life assessment via questionnaires.

Main Results:

• Six of 42 children had triple A syndrome; they presented earlier but had delayed diagnosis and lower weight.
• Initial Heller myotomy required further interventions in 65%; 85% of botulinum toxin treatments eventually led to myotomy.
• 29% of patients undergoing myotomy needed repeat procedures, with persistent symptoms impacting quality of life.

Conclusions:

• Pediatric achalasia frequently relapses post-treatment, leading to multiple procedures and persistent symptoms.
• Triple A syndrome in children is associated with earlier symptom onset but delayed diagnosis and significant nutritional impact.
• Achalasia significantly affects the long-term quality of life for affected children and their families.