Antenatal diagnosis of microvillus inclusion disease

Abstract

Microvillus inclusion disease is a rare autosomal recessive disorder due to defective apical surface of the enterocytes presenting with severe watery diarrhea starting at birth. We describe a female infant who had antenatal diagnosis of microvillus inclusion disease. At 36th gestational week of a 32-year-old woman ultrasound examination revealed dilatation of fetal sigmoid colon. The amniotic fluid level was normal. An amniocentesis was performed to rule out congenital sodium and chloride diarrhea in the prenatal period. The patient didn't prefer to undergo genetic tests. In conclusion, prenatal ultrasonographic identification of dilated bowel loops without polyhydramnios suggests differential diagnosis of microvillus inclusion disease in addition to congenital chloride diarrhea, jejunoileal atresia, volvulus, meconium ileus, Hirschsprung disease, enteric duplications, anorectal atresia.