Syndromic (phenotypic) diarrhea in early infancy.

Olivier Goulet, Christine Vinson, Bertrand Roquelaure, Nicole Brousse, Christine Bodemer, Jean-Pierre Cézard

Journal: Orphanet journal of rare diseases 2008;3():6

PMID: 18304370

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Abstract

Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000-400,000 live births in Western Europe. Ethnic origin does not appear to be associated with SD. Infants are born small for gestational age and present with facial dysmorphism including prominent forehead and cheeks, broad nasal root and hypertelorism. Hairs are woolly, easily removed and poorly pigmented. Severe and persistent diarrhea starts within the first 6 months of life (

Address: Pediatric Gastroenterology-Hepatology and Nutrition, Reference Center for Rare Digestive Disease, Hôpital Necker-Enfants Malades/AP-HP, University of Paris 5 - René Descartes, France. [email protected]

DOI: 10.1186/1750-1172-3-6

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MeSH Terms: Age Factors, Diarrhea, Infantile, Humans, Infant, Phenotype, Syndrome