Congenital microvillous atrophy
Overview
Microvillous inclusion disease, also known as Davidson's disease, congenital microvillous atrophy and, less specifically, microvillous atrophy, is a rare genetic disorder of the small intestine that is inherited in an autosomal recessive pattern.
Symptoms
* Watery diarrhea * Electrolyte imbalance * Failure to thrive
Causes
* Microvillus atrophy is an autosomal recessive disease, the pathogenesis of which remains unclear. * In contrast to other congenital secretory diarrheas, polyhydramnios has not been noticed. This suggests that some environmental factor triggers the disease in a newborn who previously apparently healthy. * At least 5 patients with congenital microvillus atrophy have presented clinical and laboratory findings suggestive of dihydropyrimidinase deficiency. In 2 of these patients, the enzymatic defect was demonstrated. Whether this association can be caused by a contiguous gene syndrome remains speculative. * The clinical course of isolated dihydropyrimidinase deficiency varies, but most patients present with neurologic signs.
Diagnosis
Diagnosis in utero is currently not possible as the gene(s) involved in the disease was only recently discovered to be MYO5b; diagnosis is made by biopsy of the small intestine
Prognosis
It is nearly always fatal unless, like short bowel syndrome patients, treated with parenteral nutrition or an intestinal transplant. The patient is often classified as being in "intestinal failure" and treated with the cohort of patients known as "short bowel syndrome" patients.