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Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene

Marika Comegna1,2, Felice Amato1,2, Renato Liguori1,2

  • 1Dipartimento di Medicina Molecolare e Biotecnologie Mediche Università di Napoli Federico II Naples Italy.

Clinical Case Reports
|December 20, 2018
PubMed

Insights

Microvillous inclusion disease (MVID) causes severe infant diarrhea and dehydration. Genetic mutation analysis is crucial for diagnosing this condition, which is often misdiagnosed.

Area of Science:

  • Pediatric Gastroenterology
  • Clinical Genetics

Background:

  • Microvillous inclusion disease (MVID) is a rare congenital enteropathy.
  • It typically presents in newborns with severe, intractable diarrhea, leading to dehydration and metabolic acidosis.

Observation:

  • This report details two novel cases of MVID.
  • The infants presented with characteristic symptoms shortly after birth.

Findings:

  • Mutation analysis proved essential for accurate MVID diagnosis.
  • Genetic testing identified specific gene mutations responsible for the disease.

Implications:

  • Highlights the importance of genetic testing in diagnosing MVID.
  • Early and accurate diagnosis can prevent misdiagnosis and guide appropriate management.
Keywords:
chronic diarrheacongenital diarrheal disordersdefects of enterocyte structuregenemicrovillous inclusion diseasemutations

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