A 36 years old woman with Hutchinson-Gilford Progeria Syndrome: a case report

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."nCase 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."nResults: 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.

Keywords

• Hutchinson-Gilford progeria syndrome
• premature atherosclerosis
• aged appearance