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Achalasia in siblings in infancy
1Department of Pediatric Surgery, Kasturba Medical College, Manipal-576119, Karnataka, India.
Insights
Familial achalasia is rare in infants, presenting with vomiting and failure to thrive. Early diagnosis via esophageal contrast roentgenography and surgical intervention are crucial for successful outcomes.
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.
Abstract:
Achalasia is rare in children, more so familial. We report two siblings with familial achalasia who presented in their infancy with vomiting and failure to thrive. Achalasia can be misdiagnosed as upper gastrointestinal obstruction as happened in one of our siblings. Esophageal contrast roentgenography is diagnostic. Both the children were treated successfully by transabdominal esophagomyotomy with fundoplication.