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Pulmonary Crohn's Disease in Down Syndrome: A Link or Linkage Problem
1Department of Pediatrics, SUNY Upstate Medical University, Syracuse, N.Y., USA.
Case Reports in Gastroenterology
|July 28, 2016
Summary
This case study highlights a rare instance of pulmonary Crohn's disease (CD) in a child with Down syndrome (DS). Early diagnosis and treatment of this autoimmune condition improved symptoms, though some lung damage persisted.
Area of Science:
- Pediatric Gastroenterology
- Pulmonology
- Genetics
Background:
- Crohn's disease (CD) is an autoimmune disorder affecting the GI tract, with rare pulmonary manifestations in children.
- Down syndrome (DS) is linked to increased autoimmune disease prevalence, but CD association is infrequent.
- This report details a unique pediatric case linking pulmonary CD and DS.
Observation:
- A 5-year-old girl with DS presented with pneumonia and pulmonary nodules on CT scan.
- Biopsies revealed necrotizing granulomas, prompting investigation for Crohn's disease.
- Gastrointestinal endoscopy confirmed CD with granulomatous inflammation.
Findings:
- The patient was diagnosed with Crohn's disease manifesting in the lungs.
- Treatment for CD led to gradual improvement in abdominal and respiratory symptoms.
- Mild residual lung calcification and fibrosis were noted post-treatment.
Implications:
- This is the first reported case of pulmonary CD in a pediatric patient with DS.
- The natural history and complications of pediatric pulmonary CD, especially with DS, require further study.
- Immune dysregulation in DS may influence the presentation and severity of autoimmune conditions like CD.
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