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Syndromic (phenotypic) diarrhea in early infancy.

Olivier Goulet1, Christine Vinson, Bertrand Roquelaure

  • 1Pediatric Gastroenterology-Hepatology and Nutrition, Reference Center for Rare Digestive Disease, Hôpital Necker-Enfants Malades/AP-HP, University of Paris 5 - René Descartes, France. olivier.goulet@nck.aphp.fr

Orphanet Journal of Rare Diseases
|February 29, 2008
PubMed
Summary

Syndromic diarrhea (SD) is a rare congenital enteropathy causing severe infant diarrhea and malabsorption. While its cause is unknown, genetic factors are suspected, and management focuses on nutritional support.

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Area of Science:

  • Genetics and rare diseases
  • Pediatric gastroenterology
  • Congenital enteropathies

Background:

  • Syndromic diarrhea (SD), also known as phenotypic diarrhea or tricho-hepato-enteric syndrome, is a severe congenital enteropathy.
  • It presents in early infancy with persistent diarrhea, malabsorption, and failure to thrive, often requiring parenteral nutrition.
  • Limited epidemiological data exist, with an estimated prevalence of 1/300,000-400,000 live births in Western Europe.

Purpose of the Study:

  • To describe the clinical, pathological, and epidemiological characteristics of Syndromic Diarrhea.
  • To highlight the diagnostic challenges and current management strategies for this rare condition.
  • To discuss the suspected genetic etiology and long-term prognosis of SD.

Main Methods:

  • Review of existing literature and case reports on Syndromic Diarrhea.
  • Analysis of clinical presentations, including facial dysmorphism, hair abnormalities (woolly hair, pili torti), and gastrointestinal symptoms.
  • Examination of histopathological findings from small intestine biopsies and discussion of immunological aspects.

Main Results:

  • Infants present with early-onset severe diarrhea, malabsorption, failure to thrive, and often facial dysmorphism and characteristic hair abnormalities.
  • Liver disease (fibrosis/cirrhosis) affects approximately half of patients.
  • While the etiology is unknown, parental consanguinity suggests an autosomal recessive genetic origin.

Conclusions:

  • Syndromic diarrhea is a severe congenital enteropathy with a poor prognosis, though survival has improved with modern management.
  • Management involves total parenteral nutrition, with some patients potentially weaning off it later in life.
  • Further research is needed to elucidate the genetic basis and develop targeted therapies for SD.