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[Achalasic megaesophagus with onset in the 1st year of life. A case report]

M Pellegrino1, M R D'Altilia, F Lotti

  • 1Divisione di Pediatria, Ospedale Casa Sollievo della Sofferenza.

Minerva Pediatrica
|June 1, 1991
PubMed

Insights

Esophageal achalasia, a rare motility disorder, can cause severe respiratory issues like cough and cyanosis in infants. Surgical intervention, esophagomyotomy, significantly relieved symptoms in a nine-month-old baby.

Area of Science:

  • Pediatric Gastroenterology
  • Neonatal Respiratory Medicine
  • Esophageal Motility Disorders

Background:

  • Esophageal achalasia is a rare primary esophageal motility disorder characterized by impaired relaxation of the lower esophageal sphincter and loss of esophageal peristalsis.
  • While typically diagnosed in adults, achalasia can present in infancy, often with atypical symptoms that can delay diagnosis.

Observation:

  • A nine-month-old infant presented with recurrent episodes of cough and cyanosis, suggestive of a significant underlying medical condition.
  • Clinical presentation mimicked common pediatric respiratory illnesses, highlighting diagnostic challenges in early-onset achalasia.

Findings:

  • Diagnostic workup confirmed esophageal achalasia as the cause of the infant's respiratory symptoms.
  • Esophagomyotomy, a surgical procedure to relieve the obstruction at the esophageal sphincter, led to a remarkable improvement in the infant's clinical condition.

Implications:

  • This case underscores that esophageal motility disorders, specifically achalasia, should be considered in the differential diagnosis of respiratory emergencies in infants.
  • Early recognition and appropriate management of pediatric esophageal achalasia are crucial to prevent severe respiratory complications and ensure optimal infant development.

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