Clinical expression

In general, infants develop severe secretory diarrhea within the first days after birth. Stool volumes reach 250-300ml/kg body weight per day, with electrolyte concentrations similar to those seen in small-intestinal fluid. This disorder is life threatening, since massive diarrhea leads to rapid dehydration and electrolyte imbalance, with subsequent metabolic decompensation within a few hours.13-15 Severe watery diarrhea persists despite bowel rest. The differential diagnosis may include congenital chloride diarrhea or sodium malabsorption diarrhea, which can be easily distinguished from MVID by blood and stool electrolyte assessment.16,17 In contrast, clinical presentation of MVID may sometimes be atypical, in the form of a predominantly pseudo-occlusive syndrome, with full and distended small bowel and colon. Some newborns have been thought to present intestinal pseudo-obstruction syndrome, and unfortunately in some of them an ileostomy was created. The most common time of onset of diarrhea in MVID is within the first few days (early-onset or congenital form). However, in a few patients the onset of diarrhea is delayed (first month) and less severe (late-onset form).

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