Severe metabolic disorders coexisting with Werner syndrome: a case report

Werner syndrome, also called adult progeria, is a heritable autosomal recessive human disorder characterized by the premature onset of numerous age-related diseases including juvenile cataracts, dyslipidemia, diabetes mellitus (DM), osteoporosis, atherosclerosis, and cancer. syndrome segmental progeroid whose presentation resembles accelerated aging. The most common causes death for WS patients are atherosclerosis A 40-year-old female presented with short stature, bird-like facies, canities alopecia, scleroderma-like skin changes, non-healing foot ulcers. patient reported history delayed puberty, abortion, hypertriglyceridemia, cataracts. clinical diagnosis was made subsequently confirmed. We discovered two WRN gene mutations in patient, Variant 1 mutation, nonsense mutation (c.1105C>T:p.R369Ter) exon 9, which caused termination codon (PTC) at position 369. 2 frameshift (c.1134delA:p.E379KfsTer5) PTC 383 has no published reports describing. Patients can show wide variety biological manifestations endocrine-metabolic systems (DM, thyroid dysfunction, hyperlipidemia). Doctors must be cognizant early treatment options.