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Familial achalasia, a case report
Farzaneh Motamed1, Vajiheh Modaresi, Kambiz Eftekhari
1Department of Pediatrics, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, IR Iran.
Iranian Journal of Pediatrics
|October 12, 2012
Summary
Pediatric achalasia, though rare, should be considered in children with a family history, even without typical symptoms. Early diagnosis and treatment, like pneumatic dilation, can be successful.
Area of Science:
- Pediatric Gastroenterology
- Clinical Genetics
Background:
- Achalasia is a rare esophageal motility disorder in children.
- A positive family history is a crucial factor in pediatric achalasia diagnosis.
- Typical symptoms may be absent in pediatric cases, necessitating broader diagnostic considerations.
Observation:
- A 5-month-old infant presented with cough and respiratory distress.
- The infant had a maternal history of achalasia.
- Esophagogastroduodenoscopy revealed achalasia, successfully treated with pneumatic dilation.
Findings:
- Achalasia diagnosis in a pediatric patient with a family history.
- Successful endoscopic pneumatic dilation treatment.
- A 12-month symptom-free follow-up post-intervention.
Implications:
- Highlights the importance of considering achalasia in pediatric patients with a family history, irrespective of classic symptoms.
- Suggests a probable autosomal recessive inheritance pattern for achalasia.
- Emphasizes the need for further genetic research to elucidate achalasia inheritance patterns in families.
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