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Microvillus Inclusion Disease: Antenatal Ultrasound and Phenotypic Severity

Vora, Rakesh; Fell, John

Journal of Pediatric Gastroenterology and Nutrition: September 2012 - Volume 55 - Issue 3 - p 237
doi: 10.1097/MPG.0b013e31824754b8
Image of the Month

Alder Hey Hospital, Liverpool, and Chelsea & Westminster Hospital, London, UK.

Address correspondence and reprint requests to Rakesh Vora, MBBS, MD, MRCPCH, Alder Hey Hospital, Liverpool, UK (e-mail:

Received 1 November, 2011

Accepted 15 December, 2011

The authors report no conflicts of interest.

Submissions for the Image of the Month should include high-quality TIF endoscopic images of unusual or informative findings. In addition, 1 or 2 other associated photographs, such as radiological or pathological images, can be submitted. A brief description of no more than 200 words should accompany the images. Submissions are to be made online at, and will undergo peer review by members of the NASPGHAN Endoscopy and Procedures Committee, as well as by the Journal.

A 4-day-old neonate presented with watery diarrhoea since day 1 and 26% weight loss. Mother's antenatal scan at 35 weeks showed polyhydramnios with significant bowel dilatation suggestive of bowel obstruction. At 37 weeks’ gestation, a 2.9-kg baby was born by normal delivery. The stool volumes were >100 mL · kg−1 · day−1. Stool electrolytes confirmed raised stool sodium 78 mmol/L (reference range 30–50), potassium 40 mmol/L (reference range 60–80), chloride 42 mmol/L, and osmotic gap 11 mOsm/kg. She required 280 mL · kg−1 · day−1 of parenteral nutrition containing 21 mmol · kg−1 · day−1 of sodium and 6 mmol · kg−1 · day−1 of potassium to maintain hydration and electrolyte balance. An electron microscopic examination of small bowel biopsy showed lack of microvilli on the surface of enterocytes and intracellular vacuolar structures containing microvilli confirming the diagnosis of microvillus inclusion disease (Figs. 1–3). Genetic testing confirmed mutations in the MYO5B gene.







Antenatal bowel dilatation with polyhydramnios can be due to intestinal obstruction or an in utero secretory diarrhoea (1,2). Antenatal recognition of the possibility of congenital secretory diarrhoea should lead to prompt fluid and electrolyte support after birth, reducing the risk of severe dehydration. The usual causes of in utero secretory diarrhoea are enterocyte transport defects. In this case, the cause was a severe phenotypic expression of microvillus inclusion disease.

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1. Chih-Ping C, Ming-Chou C, Tzu-Hao W, et al. Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea. Taiwan J Obstet Gynecol 2010;49:487–94.
2. Kennea N, Norbury R, Anderson G, et al. Congenital microvillous inclusion disease presenting as antenatal bowel obstruction. Ultrasound Obstet Gynecol 2001; 17:172–174.
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