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 (e.g., hypoplastic villus
atrophy, defective brush-border assembly and differentiation). In infants,
chronic diarrhea and malabsorption may result in severe dehydration,
malnutrition, failure to thrive, and acidosis.
Congenital Microvillous Atrophy; Davidson Disease.
Very rare but seems to be the most common cause of
severe protracted diarrhea of neonatal onset in developed countries. In 1987,
30 cases were reported worldwide in a survey among centers specializing in pediatric
gastroenterology. More recent reports indicate that typical congenital microvillous
atrophy accounts for 80% of cases. In the Navajo reservation in Northern Arizona,
the incidence is reported at 1:12,000 live births.
Probably an autosomal recessive trait.
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.
History; absence of serosal (e.g., 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.
Infants develop severe secretory diarrhea within
days of birth; more than 140 ml/kg body weight of feces 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.
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.
Blood glucose and electrolytes should be
monitored intraoperatively on a regular basis. Patients on TPN must be maintained
intraoperatively and serial measurements of electrolytes and glucose are needed.
Congenital Chloride Diarrhea: Caused by a defect in the
Cl-/HCO3- exchangers in the brush-border
membrane in the ileum and colon. Autosomal recessive inheritance. Higher
incidence in Finland and the Middle East. Parenteral replacement of fluids
and electrolytes during the neonatal period, but oral compensation can be