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Syndromic (phenotypic) diarrhea in early infancy.

Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP - Orphanet J Rare Dis (2008)

Bottom Line: Ethnic origin does not appear to be associated with SD.Early management consists of total PN.Prognosis of this syndrome is poor, but most patients now survive, and about half of the patients may be weaned from PN at adolescence, but experience failure to thrive and final short stature.

View Article: PubMed Central - HTML - PubMed

Affiliation: Pediatric 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

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 (

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Small intestine biopsy of a patient with syndromic diarrhoea showing severe villous atrophy with intense mononuclear cell infirltration in the lamina propria. (Courtesy of Prof. Michel Peuchmaur, Hôpital Robert Debré, Paris, France)
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Figure 4: Small intestine biopsy of a patient with syndromic diarrhoea showing severe villous atrophy with intense mononuclear cell infirltration in the lamina propria. (Courtesy of Prof. Michel Peuchmaur, Hôpital Robert Debré, Paris, France)

Mentions: From the reported cases in the literature, biopsies were performed during gastrointestinal endoscopy, at the time of referral to institutions or later at intervals depending on the therapeutic schedule. Biopsy specimens were stained with hematoxylin and eosin. Small intestine biopsies of the patients with SD show moderate (Figure 3) or severe villous atrophy with inconstant mononuclear cell infiltration of the lamina propria and absence of epithelial abnormalities (Figure 4). Histopathologically, there are no specific abnormalities. Few data using electron microscopy currently exist and, therefore, a precise description is not available. From our own experience (unpublished data) electron microscopy showed normal organization of the brush border, absence of anomalies of desmosomes and no remarkable picture suggesting ulstrastructural morphological changes. Extensive case reports and specimen collection should allow further studies to be performed.


Syndromic (phenotypic) diarrhea in early infancy.

Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP - Orphanet J Rare Dis (2008)

Small intestine biopsy of a patient with syndromic diarrhoea showing severe villous atrophy with intense mononuclear cell infirltration in the lamina propria. (Courtesy of Prof. Michel Peuchmaur, Hôpital Robert Debré, Paris, France)
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2279108&req=5

Figure 4: Small intestine biopsy of a patient with syndromic diarrhoea showing severe villous atrophy with intense mononuclear cell infirltration in the lamina propria. (Courtesy of Prof. Michel Peuchmaur, Hôpital Robert Debré, Paris, France)
Mentions: From the reported cases in the literature, biopsies were performed during gastrointestinal endoscopy, at the time of referral to institutions or later at intervals depending on the therapeutic schedule. Biopsy specimens were stained with hematoxylin and eosin. Small intestine biopsies of the patients with SD show moderate (Figure 3) or severe villous atrophy with inconstant mononuclear cell infiltration of the lamina propria and absence of epithelial abnormalities (Figure 4). Histopathologically, there are no specific abnormalities. Few data using electron microscopy currently exist and, therefore, a precise description is not available. From our own experience (unpublished data) electron microscopy showed normal organization of the brush border, absence of anomalies of desmosomes and no remarkable picture suggesting ulstrastructural morphological changes. Extensive case reports and specimen collection should allow further studies to be performed.

Bottom Line: Ethnic origin does not appear to be associated with SD.Early management consists of total PN.Prognosis of this syndrome is poor, but most patients now survive, and about half of the patients may be weaned from PN at adolescence, but experience failure to thrive and final short stature.

View Article: PubMed Central - HTML - PubMed

Affiliation: Pediatric 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

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 (

Show MeSH
Related in: MedlinePlus