A rare case report: Werner syndrome

Abstract

Abstract Introduction Werner syndrome (WS), also known as adult progeria, is a rare autosomal recessive syndrome caused by pathogenic loss of function of the WRN gene on chromosome 8p12. WS is characterized by signs of premature aging in young adults, including short stature, graying of hair, bilateral cataracts, and scleroderma-like skin changes. A thin, high-pitched voice is characteristic of patients. In addition, diabetes mellitus, cardiovascular disease and osteoporosis can also be seen at an increased rate. Patients have an increased thyroid neoplasms, malignant melanoma and meningioma. There is no specific or effective treatment for this rare syndrome. In this case, we aimed to present our patient with this rare syndrome. Clinical case A 28-year-old male patient was admitted for diabetes regulation and foot ulcers. In the patient's history, it was learned that he did not gain weight and did not gain sufficient height since the age of 14. He had been receiving insulin therapy for uncontrolled diabetes for about 10 years. He had cataract surgery at the age of 18. In our evaluation, there were scleroderma-like skin changes on the distal parts of both lower extremities. The patient's hair turned gray. His voice was high-pitched. Two of his siblings looked like him. One sibling who looked like him died at the age of 34. In the laboratory tests; FPG:306 mg/dL and HbA1C:11. The patient had hypergonadotropic hypogonadism. Rheumatological disease examination was normal. No pathological features were observed in lower extremity doppler examinations. Werner syndrome was considered in the patient who did not have sufficient height growth during adolescence, graying of the hair, a history of cataracts, scleroderma-like skin changes, and an elderly appearance. Malignancy scans of the patient were found to be normal. Genetic counseling was given to the patient and his family. The patient was taken to outpatient follow-up. Conclusion Werner syndrome is a rare disease. It is important to recognize patients in the early period, to prevent disease-related complications, especially in terms of the risk of malignancy development.