Tricho-hepato-enteric syndrome: Difference between revisions
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(Created page with "__NOTOC__ {{SI}} {{CMG}; {{AE}} {{ADI}} ==Overview== It is a rare genetic disorder presenting in children less than 1 year of age.<ref>http://www.checkorphan.org/disease/...") |
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__NOTOC__ | __NOTOC__ | ||
{{SI}} | {{SI}} | ||
{{CMG}; {{AE}} {{ADI}} | {{CMG}}; {{AE}} {{ADI}} | ||
==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> | |||
==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. <ref>http://www.ncbi.nlm.nih.gov/pubmed?term=21120949</ref> | |||
==Natural History, Complications and Prognosis== | |||
* Prognosis is poor. | |||
* Many patients die before the age of 5 due to [[infections]] or [[cirrhosis]]. | |||
==Diagnosis== | |||
===Symptoms=== | |||
* [[Failure to thrive]] | |||
* Intractable [[diarrhea]] | |||
* [[Intrauterine growth retardation]] | |||
* 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]] | |||
==References== | ==References== | ||
Latest revision as of 07:51, 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