Microvillus Inclusion Disease Clinical Presentation

Updated: Oct 06, 2017
  • Author: Stefano Guandalini, MD; Chief Editor: Carmen Cuffari, MD  more...
  • Print


Pregnancy and birth are usually normal in individuals with microvillus inclusion disease, and polyhydramnios is usually absent, in contrast to the clinical picture of patients with other causes of congenital secretory diarrhea. However, in some cases polyhydramnios and bowel dilation in the third trimester have been described. [10] In one case, a high fetal alpha-fetoprotein in the second trimester was observed. [11] Authors have speculated that the fetal alpha-fetoprotein elevation might possibly be caused by in utero body fluid leakage into the amniotic fluid through fetal enteropathy.

Severe diarrhea typically appears in the first days of life, usually within the first 72 hours, but a late-onset form is also known, with onset at 6-8 weeks of age. The stools are watery, and the stool output is 100-500 mL/kg/d when the infant is fed, a volume comparable to or higher than that observed in cholera. The diarrhea is of secretory type; therefore, it persists at a stable rate of 50-300 mL/kg/d despite fasting, and the electrolyte content of the stools is increased, without an osmotic gap. However, the mucosal atrophy causes osmotic diarrhea. For this reason, alimentation increases the fecal output. Because of the high output, patients can lose up to 30% of their body weight within 24 hours, resulting in profound metabolic acidosis and severe dehydration. [12]

The infant rapidly becomes dehydrated unless vigorous intravenous rehydration is started.

Microvillus inclusion disease is usually characterized by growth retardation and some developmental delay later in infancy. Associated abnormalities include Meckel diverticula, abdominal adhesions, inguinal hernias, renal dysplasia, an absent corpus callosum, and hydronephrosis. Recently, hepatic adenomas have also been described. [13]

Furthermore, microvillus inclusion disease has been reported in association with Down syndrome and aganglionic megacolon.



The infant appears severely dehydrated. Growth retardation and some developmental delay are usually present. No other specific findings can be detected. However, the disease is associated with other abnormalities, including Meckel diverticulum, mesenteric duct remnants, craniosynostosis, abnormal vertebrae, an absent corpus callosum, and hydronephrosis.



Microvillus inclusion disease is an autosomal recessive disease, the pathogenesis of which is illustrated in the section on pathophysiology.