Tricho-hepato-enteric syndrome: Difference between revisions
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{{CMG}}; {{AE}} {{ADI}} | {{CMG}}; {{AE}} {{ADI}} | ||
==Overview== | ==Overview== | ||
It is a rare genetic disorder presenting in children less than 1 year of age.<ref>http://www.checkorphan.org/disease/tricho-hepato-enteric-syndrome</ref> | It is a rare [[genetic]] disorder presenting in children less than 1 year of age.<ref>http://www.checkorphan.org/disease/tricho-hepato-enteric-syndrome</ref> | ||
==Pathophysiology== | ==Pathophysiology== | ||
* It is a genetic disorder with an autosomal recessive inheritance pattern. | * It is a genetic disorder with an [[autosomal recessive]] inheritance pattern. | ||
* Mutations in TTC37 which encodes the putative protein Thespin, have recently been associated with Tricho-Hepato-Enteric syndrome. <ref>http://www.ncbi.nlm.nih.gov/pubmed?term=21120949</ref> | * [[Mutations]] in TTC37 which encodes the putative protein Thespin, have recently been associated with Tricho-Hepato-Enteric syndrome. <ref>http://www.ncbi.nlm.nih.gov/pubmed?term=21120949</ref> | ||
==Natural History, Complications and Prognosis== | ==Natural History, Complications and Prognosis== | ||
* Prognosis is poor. | * Prognosis is poor. | ||
* Many patients die before the age of 5 due to infections or cirrhosis. | * Many patients die before the age of 5 due to [[infections]] or [[cirrhosis]]. | ||
==Diagnosis== | ==Diagnosis== | ||
===Symptoms=== | ===Symptoms=== | ||
* | * [[Failure to thrive]] | ||
* Intrauterine growth retardation | * Intractable [[diarrhea]] | ||
* [[Intrauterine growth retardation]] | |||
* Hair abnormalities - prominent forehead and cheeks, a broad nasal root and widely spaces eyes ([[hypertelorism]]) | * Hair abnormalities - prominent forehead and cheeks, a broad nasal root and widely spaces eyes ([[hypertelorism]]) | ||
* Facial abnormalities - their hairs are woolly, easily removed and poorly pigmented | * Facial abnormalities - their hairs are woolly, easily removed and poorly pigmented | ||
===Physical Examination=== | |||
* Signs of [[liver failure]] | |||
===Laboratory Tests=== | ===Laboratory Tests=== | ||
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* Biochemical analysis of hair reveal - sulfur-deficient brittle hair | * Biochemical analysis of hair reveal - sulfur-deficient brittle hair | ||
* Abnormal antibody generation - T cell dysfuntion | * Abnormal antibody generation - [[T cell]] dysfuntion | ||
==Treatment== | ==Treatment== | ||
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* No specific treatment | * No specific treatment | ||
* Total parenteral nutrition may reduce symptoms of diarrhea | * [[Total parenteral nutrition]] may reduce symptoms of diarrhea | ||
* Avoiding further damage to the liver | * Avoiding further damage to the [[liver]] | ||
==References== | ==References== | ||
Revision as of 07:50, 29 July 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2]
Overview
It is a rare genetic disorder presenting in children less than 1 year of age.[1]
Pathophysiology
- It is a genetic disorder with an autosomal recessive inheritance pattern.
- Mutations in TTC37 which encodes the putative protein Thespin, have recently been associated with Tricho-Hepato-Enteric syndrome. [2]
Natural History, Complications and Prognosis
- Prognosis is poor.
- Many patients die before the age of 5 due to infections or cirrhosis.
Diagnosis
Symptoms
- Intractable diarrhea
- Hair abnormalities - prominent forehead and cheeks, a broad nasal root and widely spaces eyes (hypertelorism)
- Facial abnormalities - their hairs are woolly, easily removed and poorly pigmented
Physical Examination
- Signs of liver failure
Laboratory Tests
Biopsy
- Small bowel - villous atrophy with low or no mononuclear cell infiltration of the lamina propria
- Microscopic analysis of the hair - twisted hairs of unequal size and different shapes
Other Diagnostic studies
- Scanning electron microscopy of hair - hair budding
- Biochemical analysis of hair reveal - sulfur-deficient brittle hair
- Abnormal antibody generation - T cell dysfuntion
Treatment
- No specific treatment
- Total parenteral nutrition may reduce symptoms of diarrhea
- Avoiding further damage to the liver