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At a glance

It is an extremely rare inherited enteropathy that is typically apparent within hours or days after birth. The disorder is characterized by chronic, severe, watery diarrhea, and malabsorption caused by hypoplasia and/or atrophy of the wall of the small intestine (eg, hypoplastic villus atrophy, defective brush-border assembly and differentiation). In infants, chronic diarrhea and malabsorption may result in severe dehydration, electrolyte imbalance, malnutrition, failure to thrive, and acidosis.

Synonyms

Congenital Microvillous Atrophy; Davidson Disease; Congenital Microvillus Atrophy Syndrome; Congenital Familial Protracted Diarrhea Syndrome; Familial Enteropathy, Microvillus Syndrome; Davidson’s Disease.

Incidence

It is a rare medical condition for which the incidence remains unknown. However, it seems to be underdiagnosed and may be the cause of more than 80% of severe protracted diarrhea of neonatal onset in developed countries. The true prevalence of this disorder is unknown. Fewer than 100 cases have been reported in the medical literature. In the Navajo reservation in Northern Arizona, USA, the incidence is reported at 1:12,000 live births. It affects more females than males with a sex ratio of about 2:1.

Genetic inheritance

It is probably inherited as an autosomal recessive trait.

Pathophysiology

It seems that the brush-border lesion is associated with a disorder of the enterocyte cytoskeleton; it results in failure of reabsorption of the large volumes of endogenous gastric, pancreatic, and biliary secretions.

Diagnosis

History; absence of serosal (eg, vasoactive intestinal peptide-secreting tumor, Zollinger-Ellison Syndrome) or infectious (bacterial toxins) causes; fecal electrolyte concentrations similar to those seen in small intestinal fluid. Jejunal biopsies complete the diagnosis: on light microscopy, hypoplastic villus atrophy with abnormal brush-border pattern and positive staining material within the apical cytoplasm of enterocytes. On electronic microscopy, surface cells show absent or grossly abnormal microvilli with numerous vesicular bodies and characteristic microvillus inclusions; crypt cells appear normal but contain increased numbers of apical vesicles and vesicular bodies.

Clinical aspects

Infants develop severe secretory diarrhea within days of birth that can account for more than 140 mL/kg of body weight in feces that can be produced every day. The disease is fatal without parenteral nutrition and even with such supplementation, most children die in infancy or early childhood. The only treatment is small bowel transplantation.

Precautions before anesthesia

In infant or child on total parenteral nutrition (TPN), check hydration, levels of blood glucose and electrolytes, liver enzymes (TPN-associated cholestasis), and coagulation (vitamin K deficit). In patients at risk for thromboembolic complications (catheter-related sepsis, serum protein imbalance), ascertain patency of the great veins if a new central venous access has to be inserted. Patient may be on intravenous octreotide therapy. The presence of an altered gastrointestinal barrier increases the risk of systemic sepsis.

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