Post-cricoid web associated with Rubinstein-Taybi syndrome

Area of Science:

• Pediatric Gastroenterology
• Clinical Genetics
• Otolaryngology

Background:

• Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and broad thumbs/toes.
• Dysphagia, or difficulty swallowing, is a recognized but infrequently emphasized symptom in RSTS.
• Post-cricoid webs are congenital or acquired obstructions in the upper esophagus, typically presenting with feeding difficulties in infants and children.

Observation:

• This report details a pediatric case of dysphagia in a seven-year-old male diagnosed with Rubinstein-Taybi syndrome.
• The dysphagia was attributed to a post-cricoid web, a rare cause of upper esophageal obstruction.
• Clinical presentation and diagnostic findings related to the web and RSTS are described.

Findings:

• The study confirms a rare co-occurrence of a post-cricoid web in a child with Rubinstein-Taybi syndrome.
• Review of existing literature identified limited previous reports of post-cricoid webs in children, with even fewer associated with RSTS.
• The findings underscore the importance of investigating swallowing difficulties in RSTS patients.

Implications:

• This case expands the understanding of the phenotypic spectrum of Rubinstein-Taybi syndrome, particularly regarding gastrointestinal manifestations.
• Early recognition and management of dysphagia due to post-cricoid webs are crucial for improving nutritional intake and preventing complications in affected children.
• Further research is warranted to elucidate the potential link between RSTS and congenital esophageal anomalies like post-cricoid webs.