Intractable Diarrhea in a Newborn Infant: Microvillous Inclusion Disease

Abstract

A newborn male presented with watery diarrhea, dehydration and metabolic acidosis. Severe secretory diarrhea of variable magnitude persisted when the patient was on parenteral nutrition with no oral intake. Initial light microscopic evaluation of a small intestinal mucosal biopsy showed partial villous atrophy and crypt hypoplasia. Ultrastructural studies of the villous enterocyte revealed internalized inclusions of microvilli, typical of microvillous inclusion disease. Presented are a case report and a discussion of the differential diagnosis of watery diarrhea in the neonate, as well as a short review of microvillous inclusion disease.

Myosin-7b Promotes Distal Tip Localization of the Intermicrovillar Adhesion Complex

“…In this context, the BB also serves as a barrier against harmful compounds and microbes in the lumen [2]. The physiological role of the BB in normal gut function is underscored by the fact that numerous intestinal diseases are characterized by perturbation to or complete loss of apical microvilli, including microvillus inclusion disease [3, 4], Type 1C Usher Syndrome [5], and infections with attaching/effacing microbes such as enterohemorrhagic and enteropathogenic E. coli [6]. …”

Microvillous Inclusion Disease—An Ultrastructural Diagnosis: With a Review of the Literature

“…As mentioned earlier severe refractory diarrhea in the neonatal period is rare. However, among this group of extraordinary diseases, MID is the commonest cause of neonatal diarrhea [6]. Only 200 children have been estimated to have this disease in Europe.…”

“…Empirical therapy with somatostatin revealed decrease in volume of the diarrhea [6], but this drug could not prevent reliance on TPN and IV fluids. Early small bowel transplantation is the first treatment of choice [23], especially combined bowel-liver transplant [24].…”

“…It has been suggested that alteration in the brush border cytoskeleton (actin, myosin, and vinuculin) causes defects in membrane trafficking [6]. This causes a block in exocytosis mainly of PAS-positive material.…”

Listen to your gut: Using adhesion to shape the surface of functionally diverse epithelia

“…enteropathogenic or enterohemorrhagic E. coli). [9][10][11][12] Although this discussion focuses on the form and function of the intestinal brush border, similar structures are assembled to fulfill a variety of functions in other epithelial tissues such as kidney, choroid plexus, lung, and gall bladder. In some cases, brush borders represent transient structural intermediates that provide a foundation for the assembly of more elaborate apical specializations during development and differentiation.…”