[Tufting enteropathy: a case report, histopathological methodology, and differential diagnoses]

Area of Science:

• Gastroenterology
• Pediatric Pathology
• Rare Diseases

Background:

• Tufting enteropathy (TE), also known as intestinal epithelial dysplasia, is a rare congenital enteropathy.
• Characterized by refractory diarrhea in neonates, it presents with clinical and histological heterogeneity.
• Causative genes remain unidentified, precluding prenatal diagnosis.

Observation:

• A case of a 4-month-old male infant with severe malnutrition and chronic watery diarrhea is presented.
• Initial duodenal and rectal biopsies were inconclusive; the infant required parenteral nutrition and suffered catheter-related infections.
• Histopathological autopsy revealed villous atrophy with intestinal epithelial dysplasia and disorganized epithelial cells resembling tufts in jejunal and ileal tissue.

Findings:

• The study identified characteristic histopathological features of tufting enteropathy in jejunal and ileal tissues.
• Routine techniques, PAS staining, and CD10 immunohistochemistry were employed for diagnosis.
• The case underscores the diagnostic difficulties and management challenges associated with TE.

Implications:

• Early referral to specialized pediatric centers is crucial for suspected TE cases.
• Intestinal transplantation is a potential therapeutic option for severe TE.
• Further research into the genetic basis of TE is needed for improved diagnostics and treatment.