Microvillous inclusion disease

Microvillus inclusion disease, also known as Davidson's disease, congenital microvillus atrophy and, less specifically, microvillus atrophy (note: microvillus is often misspelled as microvillous), is a rare genetic disorder of the small intestine that is inherited in an autosomal recessive pattern. Microvillus inclusion disease, also known as Davidson's disease, congenital microvillus atrophy and, less specifically, microvillus atrophy (note: microvillus is often misspelled as microvillous), is a rare genetic disorder of the small intestine that is inherited in an autosomal recessive pattern. It is characterized by chronic, intractable diarrhea in new-born infants, starting in the first few days of life.This results in metabolic acidosis and severe dehydration. Pregnancy and birth are usually normal. It is caused by a congenital atrophy of apical microvilli and intracellular accumulation of apical enzymes in the epithelial cells of the small intestine. Prenatal screening in utero is currently offered by several medical centers since the gene(s) involved in the disease were recently discovered to be MYO5B; Diagnosis is typically made by biopsy of the small intestine. The appearance of microvillous inclusion disease on light microscopy is similar to celiac sprue; however, it usually lacks the intraepithelial lymphocytic infiltration characteristic of celiac sprue and stains positive for carcinoembryonic antigen (CEA). The definitive diagnosis is dependent on electron microscopy. The differential diagnosis of chronic and intractable diarrhea is: 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. Microvillus inclusion disease is thought to be extremely rare; only approximately 200 cases have been identified in children in Europe.