Challenges of Microvillus Inclusion Disease in the NICU

Area of Science:

• Genetics
• Gastroenterology
• Pediatrics

Background:

• Microvillus inclusion disease (MVID) is a severe, autosomal recessive congenital enteropathy.
• It is characterized by the absence of enterocyte microvilli and the presence of intracellular microvillus inclusions.
• This pathology results in intractable, watery diarrhea, often presenting in early or late-onset forms.

Purpose of the Study:

• To summarize the genetic basis, clinical presentation, diagnosis, and management of microvillus inclusion disease.
• To highlight the critical need for genetic counseling and understanding of disease outcomes.

Main Methods:

• Review of genetic mutations (myosin 5β, syntaxin-binding protein 2, syntaxin 3).
• Analysis of clinical presentation, including early-onset and late-onset forms.
• Discussion of diagnostic methods: genetic testing, medical history, clinical presentation, and small intestinal biopsy.

Main Results:

• MVID is caused by mutations in specific genes, leading to characteristic enterocyte pathology.
• The disease presents with severe diarrhea, requiring total parenteral nutrition.
• Mortality rates are high, particularly in the early-onset form, with small intestinal transplantation offering a potential survival strategy.

Conclusions:

• Accurate diagnosis relies on a combination of clinical, histological, and genetic findings.
• Management is challenging, necessitating specialized care and nutritional support.
• Genetic counseling is essential for families, providing information on disease forms, management, and prognosis.