Congenital Microvillus Atrophy Clinical Presentation

  • Author: Stefano Guandalini, MD; Chief Editor: Carmen Cuffari, MD   more...
 
Updated: May 11, 2012
 

History

Pregnancy and birth are usually normal in individuals with microvillus atrophy, and polyhydramnios is usually absent, in contrast to the clinical picture of patients with other causes of congenital secretory diarrhea.

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.[7]

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

Microvillus atrophy 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.

Microvillus atrophy has been reported in association with Down syndrome and aganglionic megacolon.

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Physical

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.

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Causes

Microvillus atrophy is an autosomal recessive disease, the pathogenesis of which remains unclear.

In contrast to other congenital secretory diarrheas, polyhydramnios has not been noticed. This suggests that some environmental factor triggers the disease in a newborn who previously apparently healthy.

At least 5 patients with congenital microvillus atrophy have presented clinical and laboratory findings suggestive of dihydropyrimidinase deficiency. In 2 of these patients, the enzymatic defect was demonstrated. Whether this association can be caused by a contiguous gene syndrome remains speculative.

The clinical course of isolated dihydropyrimidinase deficiency varies, but most patients present with neurologic signs.

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Contributor Information and Disclosures
Author

Stefano Guandalini, MD  Director, Celiac Disease Center, Chief, Section of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Chicago Medical Center; Professor, Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, University of Chicago Division of the Biological Sciences, The Pritzker School of Medicine

Stefano Guandalini, MD is a member of the following medical societies: American Gastroenterological Association, European Society for Paediatric Gastroenterology, Hepatology & Nutrition, and North American Society for Pediatric Gastroenterology and Nutrition

Disclosure: Nothing to disclose.

Coauthor(s)

Agostino Nocerino, MD, PhD  Chief of Pediatric Oncology, Department of Pediatrics, University of Udine, Italy

Agostino Nocerino, MD, PhD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Chris A Liacouras  MD, Director of Pediatric Endoscopy, Division of Gastroenterology and Nutrition, Children's Hospital of Philadelphia; Associate Professor of Pediatrics, University of Pennsylvania School of Medicine

Chris A Liacouras is a member of the following medical societies: American Gastroenterological Association

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Steven M Schwarz, MD, FAAP, FACN, AGAF  Professor of Pediatrics, Children's Hospital at Downstate, State University of New York Downstate Medical Center

Steven M Schwarz, MD, FAAP, FACN, AGAF is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American College of Physician Executives, American Gastroenterological Association, American Pediatric Society, Gastroenterology Research Group, New York Academy of Medicine, North American Society for Pediatric Gastroenterology and Nutrition, and Society for Pediatric Research

Disclosure: Curemark, LLC Consulting fee Board membership; Centocor, Inc. Grant/research funds Independent contractor; Johnson & Johnson, Inc. Grant/research funds Independent contractor

Chief Editor

Carmen Cuffari, MD  Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

References

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