Paper Information

Journal:   TEHRAN UNIVERSITY MEDICAL JOURNAL (TUMJ)   DECEMBER 2007 , Volume 65 , Number 9; Page(s) 77 To 81.
 
Paper: 

A 36 YEARS OLD WOMAN WITH HUTCHINSON-GILFORD PROGERIA SYNDROME: A CASE REPORT

 
 
Author(s):  AKRAMI S.M.*, YOUSEFZADEH GH.R.
 
* DEPT. OF MEDICAL GENETICS, POURSINA ST., TEHRAN, 14176-13151
 
Abstract: 

Background: Hutchinson-Gilford Progeria Syndrome (HGPS) is a very rare genetic disorder with a frequency of 1 in 8 million live births. It is characterised by premature aging phenotype. The median age at death is 13.4 years. It is an autosomal dominat disease due to a de novo point mutation in the Lamin A gene exon 11 in the majority of cases. More than 100 cases have been reported world wide.
Case report: We describe here an exceptionally long-lived patient with HGPS, who is alive at age 36. She was referred by a cardiologist to our endocrinology clinic to be worked up for presence of a metabolic or genetic disorder before a heart surgery.
Results: Having more attention of clinicians about very rare diseases and referring the patients to geneticist are the main goals of this case report as well as describing the disease.

 
Keyword(s): HUTCHINSON-GILFORD PROGERIA SYNDROME, PREMATURE ATHEROSCLEROSIS, AGED APPEARANCE, SHORT STATURE
 
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