Early Onset Werner Syndrome

Werner syndrome(WS) is a rare autosomal recessive adultonset progeroid disorder characterized by the early onset of aged-appearance and age-related metabolic disorderscaused by homologous mutations at the WRN helicase locus (1). The features of the syndrome were first described as sclerodermalike skin changes, short stature, gray hairand genital hypoplasia (2). Later, other endocrinological manifestations, including osteoporosis and glucose metabolism abnormalities have been shown to be the components of this syndrome. Generally, the first manifestation of the disease is absence of growth spurt (3). The incidence of WS is one per million. It is known that the frequency of this syndrome is higher in Japan as 75% of patients were reported from Japan between 1904 and 2008 (4). Case reports from Turkey are extremely rare (5,6,7,8). Symptoms of premature agingusually first develop in the third decade of life (3). Herein, we present an atypical case of WS with early onset of premature aging-related metabolic disorders. Werner syndrome(WS) is a rare autosomal recessive adult-onset progeroid disorder characterized by the early onset of aged-appearance and age-related metabolic disorders. Symptoms of premature agingusually first develop in the second-third decades of life. We report a 27-year-old female who was admitted to our clinic at the age of eighteen with hyperglycemia. She was diagnosed with diabetes and type 4 dyslipidemia at the age of seven. In her family history, her parents were first cousins and she had three healthy brothers. On her first physical examination; she had bird-like face appearance, global hair loss, beakednose, short statureand she was overweight. She had global hair losswith gray and thin hair. Hoarseness of voice and hyperkeratosisof skin were observed. She had bilateral cataracts and moderate sensorineural hearing loss. On psychiatric examination, borderline mental retardation was detected. She had severe insulin resistance and hypertriglyceridemiadespite levothyroxine, gemfibrozil, omega-3 and intensive insulin treatment. Routine lipid apheresis was performed to lower the triglyceride levels reaching 5256 mg/dL. She also had focal segmental glomerulosclerosis, hepatosteatosis, osteoporosis and epilepsy. Disease was accompanied by several congenital deformities, such as Rathke’s cleft cyst, angiomyolipomaand femoral neck hypoplasia. WS is a rare genetic disorder characterized by multiple endocrine manifestations as well as soft tissue changes. We present a case of early disturbances that were diagnosed before typical clinical signs and symptoms. We propose that WS should be kept in mind when type 2 diabetes and hyperlipidemia are diagnosed early in childhood. Turk Jem 2015; 19: 99-104