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Achalasia Cardia in Infants: Causes, Symptoms, and Treatment

Reuben Fowler
Written by
Reuben Fowler
Achalasia Cardia in Infants: Causes, Symptoms, and Treatment

Table of Contents

Pathophysiology of Achalasia: Understanding Esophageal Motility

Achalasia is primarily caused by the degeneration of the myenteric neurons that innervate the LES and esophageal body, resulting in an imbalance between excitatory and inhibitory signals in the enteric nervous system (Achalasia can present at any age and is best described as a readily treatable esophageal motility disorder. The pathophysiology behind achalasia is the degeneration of myenteric neurons that innervate the lower esophageal sphincter (LES) and esophageal body). This degeneration leads to increased basal pressure of the LES and impaired relaxation during swallowing, ultimately causing the esophagus to dilate above the sphincter. The typical symptoms of achalasia include difficulty swallowing (dysphagia), regurgitation of undigested food, chest pain, and weight loss.

Achalasia can occur as a primary (idiopathic) condition or secondary to other diseases such as viral infections, autoimmune disorders, or genetic syndromes. The genetic factors associated with achalasia include mutations in genes that encode receptors for vasoactive intestinal peptide and nitric oxide synthase, which are vital for normal esophageal function.

Diagnosis of Achalasia: Key Tests and Imaging Techniques

The diagnosis of achalasia in infants is challenging due to the nonspecific nature of the symptoms, which can often mimic gastroesophageal reflux disease (GERD). A thorough clinical history combined with specific diagnostic tests is essential for accurate diagnosis. Common diagnostic methods include:

  1. Barium Swallow Study: This imaging technique helps visualize the esophagus and assess its motility. In achalasia, the barium swallow typically reveals a dilated esophagus with a characteristic “bird-beak” appearance at the LES.

  2. Esophageal Manometry: This test measures the pressure and pattern of contractions in the esophagus. In achalasia, manometry reveals elevated resting LES pressure and incomplete relaxation during swallowing, along with the absence of peristalsis in the esophageal body.

  3. Endoscopy: Although not routinely used for diagnosis, endoscopy can help rule out other conditions such as structural abnormalities or malignancies that may cause similar symptoms.

  4. Imaging Techniques: MRI and ultrasound may be used in some cases to assess esophageal anatomy and to exclude other structural anomalies.

Treatment Options for Infants with Achalasia Cardia

Management of achalasia in infants primarily focuses on alleviating symptoms and preventing complications. Treatment options include:

  1. Surgical Intervention: The most definitive treatment for achalasia is surgical myotomy, specifically Heller’s myotomy. This procedure involves cutting the muscles of the LES to relieve obstruction. In some cases, a fundoplication may be performed simultaneously to prevent reflux.

  2. Endoscopic Treatments: In older children and adults, endoscopic balloon dilation or injection of botulinum toxin into the LES can be considered. These methods are less commonly used in infants due to the technical difficulties and risks associated with the procedures.

  3. Medical Management: While pharmacological options such as calcium channel blockers may be beneficial in adults, their efficacy in infants is not established, and medical management is typically not recommended as a primary treatment option for infants.

  4. Supportive Care: Nutritional support is crucial. Infants may require enteral feeding via nasogastric tubes initially, and parents should be educated about the signs of aspiration and respiratory distress.

Importance of Early Intervention in Achalasia Management

Early diagnosis and intervention are paramount in managing achalasia in infants. Delayed treatment can lead to complications such as malnutrition, aspiration pneumonia, and significant developmental delays due to inadequate caloric intake. Regular follow-up with a pediatric gastroenterologist ensures that any complications are managed promptly, and that nutritional needs are met.

Additionally, a multidisciplinary approach involving pediatricians, gastroenterologists, dietitians, and, when necessary, surgeons is essential for optimal management. By ensuring that infants with achalasia receive timely and appropriate intervention, healthcare providers can significantly improve clinical outcomes and quality of life for affected infants and their families.

Frequently Asked Questions (FAQs)

What is achalasia cardia?

Achalasia cardia is an esophageal motility disorder where the lower esophageal sphincter fails to relax, leading to swallowing difficulties and potential aspiration.

How is achalasia diagnosed in infants?

Diagnosis typically involves a combination of clinical history, barium swallow studies, esophageal manometry, and sometimes endoscopy or imaging techniques.

What are the treatment options for infants with achalasia?

The main treatment options include surgical intervention (Heller’s myotomy), endoscopic treatments (less common in infants), and supportive care, including nutritional support.

Is achalasia hereditary?

While the exact cause of achalasia is often idiopathic, genetic factors can play a role, and certain genetic syndromes are associated with an increased risk.

What are the potential complications of untreated achalasia?

Untreated achalasia can lead to malnutrition, aspiration pneumonia, and developmental delays due to inadequate caloric intake.

References

  1. WHO. (2012). 15 million preterm births: Priorities for action based on national, regional, and global estimates. In Born Too Soon: The Global Action Report on Preterm Birth
  2. Vaginal and neonatal microbiota in pregnant women with preterm premature rupture of membranes and consecutive early onset neonatal sepsis. https://doi.org/10.1186/s12916-023-02805-x
  3. Origins and Diversification of Myiasis Across Blowflies. https://pubmed.ncbi.nlm.nih.gov/11825212/
  4. Sample preparation techniques for extraction of vitamin D metabolites from non-conventional biological sample matrices prior to LC–MS/MS analysis. https://doi.org/10.1007/s00216-022-04097-1
  5. Timing matters: age-dependent impacts of the social environment and host selection on the avian gut microbiota. https://doi.org/10.1186/s40168-022-01401-0
  6. Epidermal Immunity and Function: Origin in Neonatal Skin. https://doi.org/10.3389/fmolb.2022.894496
  7. Neonatal Achalasia Cardia: A Case Report. https://doi.org/10.7759/cureus.67954
Reuben Fowler
Written by
Reuben Fowler

Reuben holds a degree in nutrition science from the University of California, Berkeley. His focus is on sustainable eating and plant-based diets. Outside of writing, Reuben loves to hike and frequently shares advice on maintaining a healthy and eco-friendly lifestyle.