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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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Typical facial dysmorphism with prominent forehead and cheeks, broad nasal root and hypertelorism. Abnormal hairs are woolly, easily removed and poorly pigmented.
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Figure 1: Typical facial dysmorphism with prominent forehead and cheeks, broad nasal root and hypertelorism. Abnormal hairs are woolly, easily removed and poorly pigmented.

Mentions: The patients present with diarrhea starting within the first 6 months of life (≤ 1 month in most cases). Severe malabsorption leads to early and severe protein energy malnutrition with failure to thrive and patients require parenteral nutrition (PN). Diarrhea persists while on bowel rest on PN. All affected infants have several features in common [Additional file 1]. They are small for gestional age (<10° percentile) and have an abnormal phenotype. All have facial dysmorphism with prominent forehead and cheeks, broad nasal root and hypertelorism (Figure 1). Most children have difficulties with fine motor movements and are mentally retarded. They have a distinct hair abnormality: woolly hair that is easily removed and poorly pigmented even in children of Middle Eastern origin. Microscopic analysis of the hair shaft reveals non-specific abnormalities: twisted hair (pili torti), aniso- and poilkilotrichosis, trichorrhexis nodosa and longitudinal breaks (Figure 2), and trichothiodystrophy. Some cases were reported with trichorrhexis blastysis under scanning electron microscopy [10,11]. In the same cases, biochemical analysis of hairs revealed several anomalies of the amino acid pattern, including a low cystine content in the cases of trichothiodystrophy. There is currently no specific biochemical profile. Around half of the patients have liver disease [Additional file 1].


Syndromic (phenotypic) diarrhea in early infancy.

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

Typical facial dysmorphism with prominent forehead and cheeks, broad nasal root and hypertelorism. Abnormal hairs are woolly, easily removed and poorly pigmented.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 1: Typical facial dysmorphism with prominent forehead and cheeks, broad nasal root and hypertelorism. Abnormal hairs are woolly, easily removed and poorly pigmented.
Mentions: The patients present with diarrhea starting within the first 6 months of life (≤ 1 month in most cases). Severe malabsorption leads to early and severe protein energy malnutrition with failure to thrive and patients require parenteral nutrition (PN). Diarrhea persists while on bowel rest on PN. All affected infants have several features in common [Additional file 1]. They are small for gestional age (<10° percentile) and have an abnormal phenotype. All have facial dysmorphism with prominent forehead and cheeks, broad nasal root and hypertelorism (Figure 1). Most children have difficulties with fine motor movements and are mentally retarded. They have a distinct hair abnormality: woolly hair that is easily removed and poorly pigmented even in children of Middle Eastern origin. Microscopic analysis of the hair shaft reveals non-specific abnormalities: twisted hair (pili torti), aniso- and poilkilotrichosis, trichorrhexis nodosa and longitudinal breaks (Figure 2), and trichothiodystrophy. Some cases were reported with trichorrhexis blastysis under scanning electron microscopy [10,11]. In the same cases, biochemical analysis of hairs revealed several anomalies of the amino acid pattern, including a low cystine content in the cases of trichothiodystrophy. There is currently no specific biochemical profile. Around half of the patients have liver disease [Additional file 1].

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