Achalasia cardia and alacrima in an infant

Area of Science:

• Pediatric Gastroenterology
• Rare Diseases
• Genetics

Background:

• Achalasia cardia is exceptionally rare in pediatric populations, often leading to delayed diagnosis.
• Infantile achalasia can present with non-specific symptoms like regurgitation and failure to thrive, mimicking gastroesophageal reflux.
• Genetic predispositions and syndromic associations are increasingly recognized in rare pediatric conditions.

Observation:

• A 4-month-old infant presented with persistent regurgitation and failure to thrive, initially managed as gastroesophageal reflux.
• A family history of achalasia cardia, including a fatality and developmental delay, was noted.
• The patient exhibited alacrima (inability to produce tears) alongside achalasia cardia.

Findings:

• The infant was diagnosed with achalasia cardia, a rare esophageal motility disorder.
• The co-occurrence of achalasia cardia and alacrima suggested a potential syndromic diagnosis.
• The case underscores the importance of considering rare genetic syndromes in pediatric achalasia.

Implications:

• Recognizing syndromic associations like the '4 A' syndrome (achalasia, alacrima, Addison's disease, alagille syndrome) is vital for comprehensive diagnosis.
• Increased awareness of rare pediatric achalasia and its associated conditions can improve diagnostic timelines.
• Early diagnosis and management of pediatric achalasia are critical for preventing long-term complications and improving outcomes.