[Recurrent pyloric stenosis in a 7-year-old child with chronic granulomatous disease]

Area of Science:

• Pediatric Gastroenterology
• Immunology
• Genetics

Background:

• Hypertrophic pyloric stenosis (HPS) typically affects infants aged 3-8 weeks.
• Older children are rarely affected by HPS.
• X-linked chronic granulomatous disease (X-linked CGD) is a primary immunodeficiency.

Observation:

• A case of a boy with X-linked CGD experienced recurrent pyloric stenosis at ages 3 and 7 years.
• This presentation is highly unusual given the typical age of HPS onset.
• The patient's condition was managed successfully with corticosteroid therapy.

Findings:

• The recurrent pyloric stenosis in this case was attributed to an inflammatory origin.
• Corticosteroid treatment was solely responsible for the favorable progression of the stenosis.
• X-linked CGD can manifest with gastrointestinal involvement, mimicking features of pediatric inflammatory bowel disease.

Implications:

• This case underscores the importance of considering inflammatory etiologies for atypical presentations of pyloric stenosis in older children.
• Early diagnosis and management of X-linked CGD can prevent severe complications, including gastrointestinal manifestations.
• Targeting inflammation with corticosteroids may be a viable therapeutic strategy for certain forms of non-infantile pyloric stenosis.