Achalasia in siblings in infancy.

Area of Science:

• Pediatric Gastroenterology
• Rare Genetic Disorders
• Esophageal Motility Disorders

Background:

• Familial achalasia is an exceptionally rare condition in pediatric populations.
• Infantile achalasia can mimic other gastrointestinal issues, leading to diagnostic delays.
• Early identification and management are critical for preventing complications.

Observation:

• Two siblings presented in infancy with symptoms of vomiting and failure to thrive, indicative of achalasia.
• One sibling's condition was initially misdiagnosed as an upper gastrointestinal obstruction.
• Esophageal contrast roentgenography proved effective in diagnosing achalasia.

Findings:

• Familial achalasia was confirmed in both siblings.
• Successful treatment was achieved through transabdominal esophagomyotomy with fundoplication.
• The surgical approach provided a definitive resolution for the condition.

Implications:

• Highlights the importance of considering rare familial achalasia in infants with unexplained gastrointestinal symptoms.
• Emphasizes the diagnostic utility of esophageal contrast roentgenography in pediatric achalasia.
• Demonstrates the efficacy of transabdominal esophagomyotomy with fundoplication as a treatment for infantile familial achalasia.