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Congenital cricopharyngeal achalasia
Insights
Congenital cricopharyngeal achalasia in infants is more common than previously thought. Early diagnosis via esophagram and prompt management, often conservative, can lead to improvement, especially in cases without central nervous system abnormalities.
Area of Science:
- Pediatric Gastroenterology
- Otolaryngology
- Neurology
Background:
- Congenital cricopharyngeal achalasia is a rare condition affecting infants.
- Diagnosis is often delayed, occurring within the first year of life.
- Associated central nervous system (CNS) diseases are common in affected infants.
Purpose of the Study:
- To review cases of congenital cricopharyngeal achalasia in infants.
- To evaluate the diagnostic methods and management strategies.
- To assess the impact of associated CNS diseases on patient outcomes.
Main Methods:
- Retrospective review of fifteen infants diagnosed with congenital cricopharyngeal achalasia.
- Diagnostic tools included esophagram with tele- or cineradiography.
- Esophageal motility studies were utilized for further evaluation.
Main Results:
- Most infants presented with symptoms at birth, but diagnosis was often delayed.
- Eleven out of fifteen infants had associated CNS diseases.
- Conservative management led to spontaneous improvement in most cases, particularly those without CNS abnormalities. Surgical intervention (myotomy) showed moderate improvement.
- Two deaths occurred, both related to associated diseases.
Conclusions:
- Congenital cricopharyngeal achalasia is underrecognized.
- Esophagram and esophageal motility studies are crucial for diagnosis.
- Outcomes are generally favorable with conservative management, though CNS involvement can complicate recovery.
Abstract:
Fifteen infants with congenital cricopharyngeal achalasia are reviewed. Although most of the patients had symptoms at birth, the diagnosis was frequently not confirmed until later in the first year of life. While four of the infants had only cricopharyngeal achalasia, 11 had associated diseases related to the central nervous system. Those patients without associated diseases improved spontaneously with conservative management; most of the infants with other abnormalities also improved, although their clinical progress was slower and more complicated. In three of the patients, the symptoms were persistent and there were two deaths related to associated diseases. Cricopharyngeal myotomy was performed on two children with only moderate improvement in symptoms. Congenital cricopharyngeal achalasia is more common than formerly recognized. When suspected, an esophagram with tele- or cineradiography is essential to confirm the diagnosis. Esophageal motility studies will quantify changes and also evaluate lower esophageal dysfunction not easily identified on esophagrams.