[A boy with abdominal pain and a hypertympanic abdomen]

Area of Science:

• Genetics
• Pediatrics
• Gastroenterology

Background:

• Potocki-Lupski syndrome (17p11.2 duplication) is a rare genetic disorder associated with various health issues, including developmental delays and gastrointestinal problems.
• Constipation is a common symptom in children with intellectual disabilities, often requiring medical management.

Observation:

• A 6-year-old boy with Potocki-Lupski syndrome, mild intellectual disability, and constipation presented with recurrent abdominal pain.
• Physical examination revealed a hypertympanic and distended abdomen.
• Despite normal bowel movements with polyethylene glycol, the patient experienced significant discomfort.

Findings:

• Abdominal X-ray demonstrated extreme dilatation and elongation of the colon.
• The colonic distension was strongly correlated with aerophagia (excessive air swallowing).

Implications:

• This case underscores the importance of considering aerophagia as a potential cause of severe colonic dilation and abdominal pain in children with Potocki-Lupski syndrome.
• Identifying and managing aerophagia may be crucial for improving gastrointestinal symptoms and quality of life in affected individuals.
• Further research into the link between genetic syndromes, intellectual disability, and aerophagia is warranted.