Prenatal ultrasound markers associated with microvillus inclusion disease in a consanguineous Hispanic family

2014

Kellie Ellerbusch
[email protected]
402-559-4892

A 27 year old , gravida 3, para 2, Hispanic woman had dilated loops of bowel identified on ultrasound at 21 weeks gestation. She and her husband were first cousins; they had two prior children diagnosed with microvillus inclusion disease (MVID). MVID is a rare autosomal recessive disorder characterized by intractable life-threatening watery diarrhea during infancy. Individuals from multiple ethnic groups have a diagnosis of MVID, but a higher proportion is seen in populations with consanguinity. This case presents a rare Hispanic family with consanguinity whose prenatal ultrasound showed dilated loops of bowel on fetal MRI and prenatal ultrasounds throughout pregnancy with normal amniotic fluid levels. Mutations in MYO5B are associated with MVID but genetic testing was not completed. At 34 gestational weeks, a 3030 g female was delivered spontaneously with symptoms consistent with MVID. The diagnosis of MVID was confirmed at one week of age on endoscopic biopsy.

Prenatal ultrasound markers, microvillus inclusion disease, Hispanic Family

Conference presentations and posters presented

Professionals, Students

Electronic (disc, CD, 508 compliant web posting)

[email protected]

N/A