Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic IBD

Area of Science:

• Pediatric Gastroenterology
• Anatomic Pathology
• Gastrointestinal Diseases

Background:

• Childhood enteropathies cause chronic diarrhea and can lead to fatal complications.
• Accurate classification is vital for timely treatment and improved infant outcomes.
• These disorders are categorized by underlying pathology affecting nutrient absorption, enterocyte function, enteroendocrine cells, or immune responses.

Purpose of the Study:

• To provide an updated review of small intestinal biopsy findings in childhood enteropathies.
• To highlight diagnostic features for practicing pathologists, including new entities like early-onset monogenic inflammatory bowel disease (IBD).

Main Methods:

• Review of current literature on childhood enteropathies and their histopathological features.
• Analysis of small intestinal biopsy findings across different etiological categories.
• Inclusion of emerging conditions such as very early onset monogenic IBD.

Main Results:

• Intestinal mucosa can appear normal or show villous atrophy, inflammation, or specific abnormalities.
• Key findings include epithelial defects, lipid vacuolization, absence of plasma cells, lymphangiectasia, microorganisms, and infiltrates.
• Histopathology aids in differentiating between various types of childhood enteropathies.

Conclusions:

• Small intestinal biopsy is crucial for diagnosing childhood enteropathies.
• Pathologists play a key role in identifying specific histopathological patterns.
• Understanding these findings is essential for managing and preventing severe complications in affected infants.