Tricho-hepato-enteric syndrome: Difference between revisions

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*  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==
* Prognosis is poor. 
*  Many patients die before the age of 5  due to infections or cirrhosis.
==Diagnosis==
==Diagnosis==
===Symptoms===
===Symptoms===
Line 34: Line 39:


*  Abnormal antibody generation - T cell dysfuntion
*  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==

Revision as of 07:47, 29 July 2012

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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
  • 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

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

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