Review of Two Siblings with Werner's Syndrome: A Case Report

Abstract

We report the clinical course of two siblings with Werner's syndrome (WS) who were diagnosed and followed at our clinics for 12 years. Initial diagnosis of the first sibling (sister) was at age 20, the second (brother) at 16. At the initial diagnosis, the sister had amenorrhea, muscle atrophy at arms and legs, diabetes mellitus (DM), short stature, bilateral cataracts, genital hypoplasia, osteoporosis, and gray hair. During 12 years follow-up period, high-pitched voice, hepatosteatosis, renal parenchymal disease, and urethral obstruction developed. Regarding the brother, DM, cataracts and genital hypoplasia were observed at the initial diagnosis. During the 12 years follow-up period, gray hair, high-pitched voice, steatohepatosis, and osteoporosis developed.

Werner syndrome associated with acroosteolysis

“…Werner syndrome is an autosomal recessive disorder and careful observation of the clinical features typically leads to its diagnosis [5]. As was in our case, consanguineous marriages significantly increase the probability of WS occurrence in patients and their siblings [6,7]. We would like to emphasize the atypical feature of acroosteolysis, which is rare and started at an earlier stage than most patients with WS.…”

Werner’s syndrome: A case report and review of literature

“…Patients may develop different forms of atherosclerosis specially that affecting the coronary arteries leading to myocardial infarction that is the first cause of death in WS [4]. Increase in the blood hyaluronic acid levels is responsible for sclerodermatous changes and cardiovascular abnormalities [6].…”

Werner Syndrome: A Case Report of Two Brothers of Pangeria

“…Werner syndrome is an autosomal recessive disease that characterized by accelerated senility after puberty. It has a global incidence rate of less than 1 in 100,000 live births, but incidence in Japan is higher [1][2][3][4]. The mutation is in the WRN gene (Werner Syndrome RecQ like Helicase) that encode for DNA helicase which is thought to be important for the maintenance and repair of DNA.…”