CAUSES & CONDITIONS

Microvillus Inclusion Disease

Davidson’s disease — a rare genetic cause of congenital intestinal failure

Microvillus Inclusion Disease (MVID) — also called Davidson’s disease or congenital microvillous atrophy — is an extremely rare, life-threatening genetic disorder of the small intestine.

Inherited in an autosomal recessive pattern, it causes a structural defect in the gut lining so the intestines cannot absorb nutrients and fluids. It is a classic cause of congenital intestinal failure.

CLINICAL
Signs & Symptoms

Pregnancy and birth are usually normal. The disease appears rapidly after birth.

Intractable diarrhea — severe, watery, persistent from the first days of life; does not stop with bowel rest
Metabolic acidosis — base mineral loss from frequent stooling disrupts body pH
Profound dehydration — massive fluid loss that can be fatal without immediate stabilization

DIAGNOSIS
Diagnostic Protocols

MVID is a cellular defect, not a structural blockage. Diagnosis requires microscopic examination of intestinal tissue.

Small bowel biopsy → Light microscopy → Electron microscopy (definitive)

Light microscopy

Blunted or flattened villi (similar to celiac disease) but without the typical immune-cell infiltration of celiac. Tissue stains positive for CEA (carcinoembryonic antigen).

Electron microscopy — gold standard

Shows the hallmark finding: brush-border microvilli missing from the cell surface and instead collapsed inside the cells as microvillous inclusions.

Differential diagnosis

Other rare enteropathies to rule out: intestinal epithelial dysplasia (tufting enteropathy), syndromic diarrhea, and immunoinflammatory enteropathy.

GENETICS
Genetics & Prevalence

MVID is an exceptionally rare orphan disease. It is most often driven by mutations in the MYO5B gene, which alters cellular transport in the intestinal lining.

Atypical presentations

While historically considered permanent without transplant, rare cases of improvement have been reported:

A teenage patient on TPN for 13 years developed functioning microvilli and transitioned to an oral diet
An infant in the UK achieved full nutritional independence by age 3
A Dutch variant used tube feedings without the typical MYO5B mutation

TREATMENT
Clinical Management

Anti-diarrheal and antisecretory medications have been tried; none have proven effective at repairing the underlying cellular defect.

Total Parenteral Nutrition (TPN)

Infants need immediate, often long-term TPN because the intestines cannot process food or fluid. Complete nutrition is delivered into a large central vein.

Long-term risks: TPN-associated liver disease (cholestasis/cirrhosis) and central line infections (sepsis)
Intestinal transplantation

If advanced liver damage, recurrent line infections, or loss of central venous access develop, intestinal or multi-visceral (liver and bowel) transplant becomes the primary path to long-term survival.

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Note
This information is for educational purposes only and is not a substitute for professional medical advice. Always consult your medical team for diagnosis and treatment decisions.