Werner's Syndrome

An Autopsy Case with a Review of the Autopsied Cases

Abstract

An autopsy case of Werner's syndrome is presented.
The patient was 29 years old male. Since his adolescenec he gradually developed hoarse voice, solar callosity, gray hair, alopecia and juvenile cataracts. During the hospitalization for hypertention, diagnosis of Werner'f syndrome was made, based on his characteristic clinical manifestations.
Despite intensive treatment with diuretics and cardiotonics, he died of cardiac and renal failure.
In the family history, his parents were consanguineously married, but none of siblings revealed similar abnormalities. On laboratory examinations including endocrinological function tests, no contributory data were obtatined except for the those suggesting of cardiac and renal failure.
In the autopsy findings, his countenance appeared older than his age due to alopecia with gray hair and atrophy of the facial skin. At the lower abdomen and the lower limb the skin was atrophic with slight hyper pigmentation. Solar callosity, artificial left eye, postoperative status of the right eye, loss of the axillar and the pubic hair and atrophy of the testes and the penis were also observed. In the cardiovascular system, moderate myocardial hypertrophy, aortic atherosclerosis and generalized arterio-and arteriolar sclerosis were found. Especially in the arteriole of the brain, pancreas and prostate, the pseudocalcification and the Mönckeberg's sclerosis were noticed. Marked arteriolosclerosis with the findings of the malignant nephrosclerosis were noted in the kidney. The endocrine organs, including the pituitary gland, thyroid, adrenal gland, pancreas and testes, were atrophic.
The bone showed trabecular atrophy.
The vocal cord was also atrophic and the submucosa tissue was fibrous.
The thymus showed a complete involution He had no malignancy.
Review of the literature on autopsy oases of this syndrome revealed scleroderma-like skin atrophy, arteriosclerosis and atrophy of the endocrine and genital organs, as in the present one. Significant histological change is usually seen in the skin, blood vessels, eye, bone and vocal cord. Atrophic tendency of the visceral organs including the endocrine organs is also demonstrated. Based on these clinical and pathomorphological findings, the role of the connective tissue in the pathogenesis of this syndrome is emphasized. The correlation between the connective tissue and ageing was discussed.