Microvillous inclusion disease

Rūta Kucinskiene1, Dainius Janciauskas, Antanas Puzas

  • 1Clinic of Children Diseases, Kaunas University of Medicine Hospital, 50010 Kaunas, Lithuania. rutadr@sala.lt

Insights

Congenital intestinal defects can cause severe neonatal diarrhea. Microvillous inclusion disease, a rare condition, requires intestinal transplantation for treatment.

Area of Science:

  • Gastroenterology
  • Pediatric Surgery
  • Histopathology

Background:

  • Congenital intestinal mucosal defects can lead to severe neonatal diarrhea.
  • Protracted secretory diarrhea in newborns often has poor outcomes without intestinal transplantation.

Observation:

  • A case of a newborn female with severe protracted secretory diarrhea after breast milk intake is presented.
  • The infant experienced severe dehydration and metabolic acidosis despite medical interventions.

Findings:

  • Endoscopic biopsies revealed pathological mucosa with total microvillous atrophy.
  • Histological examination showed thinned epithelium and PAS positivity, indicative of microvillous inclusion disease.

Implications:

  • Microvillous inclusion disease is a rare congenital condition.
  • Diagnosis necessitates total parenteral nutrition and consideration of intestinal transplantation.
  • Early diagnosis and intervention are crucial for managing this severe neonatal condition.

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