معرفي يك بيمار سندرم هوچينسون گيلفورد پروجريا (گزارش موردي)

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

Background: Hutchinson-Gi lford Progeria Syndrome (HOPS) is a very rare genetic disorder with a frequency of I in 8 million live births . It is characterised by premature aging phenotype. The median age at death is 13.4 year s. It is an auto soma l dorninat 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 -Jived patient with HOPS, who is alive at age 36. She was referred by a cardiologist to our endocrinology clinic to be worked IIp 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 thi s case report as well as describing the disease .