Gastrointestinal sarcoidosis presenting with malabsorption at an early age

Area of Science:

• Pediatric Gastroenterology
• Immunology
• Rare Diseases

Background:

• Sarcoidosis is a chronic multisystemic granulomatous disease, typically affecting young adults with thoracic involvement.
• Extrapulmonary sarcoidosis is uncommon in adults and exceptionally rare in children.
• Early diagnosis and management are crucial for improving patient outcomes.

Observation:

• A 4-year-old male presented with chronic diarrhea and abdominal distention for 8 months.
• Endoscopic biopsies revealed noncaseating granulomas throughout the gastrointestinal tract.
• Liver biopsy also showed noncaseating granulomas.

Findings:

• The patient's presentation of granulomatous inflammation in the entire gastrointestinal system and liver, coupled with elevated serum angiotensin-converting enzyme, confirmed sarcoidosis.
• This case represents the youngest patient documented with combined gastrointestinal and hepatic sarcoidosis.
• Notably, pulmonary involvement was absent at the onset of the disease.

Implications:

• This case underscores the importance of considering sarcoidosis in pediatric patients with unexplained chronic gastrointestinal symptoms.
• The extensive gastrointestinal involvement highlights a rare but significant manifestation of pediatric sarcoidosis.
• Further research is needed to understand the specific mechanisms and long-term prognosis of extrapulmonary sarcoidosis in children.