1/5. Severe bone changes in a case of Hutchinson-Gilford syndrome.The Hutchinson-Gilford progeria syndrome (HGPS) is a very rare, but well known inherited condition of uncertain etiology in which features of premature and accelerated aging are mixed with those of delayed maturity and immaturity. Appearance at birth and birth weight are usually normal but growth typically slows after 1 year. All organ systems undergo degeneration to such an extent that the patient resembles an old man or woman. Short stature, micrognatia, alopecia, sculptured nose, prominent scalp veins, loss of subcutaneous fat, prominent joints, hyperlipidemia and early arteriosclerosis characterize the syndrome. Skeletal compromise includes hypoplasia and dysplasia, persistent open fontanelles, severe osteolysis and pathological fractures. There are no intellectual deficits in patients with this syndrome, and intelligence is unaffected. The life span in progeria is shortened by early arteriosclerosis. In this case, we review the characteristics of the severe osteolytic compromise in distal arms and limbs and bone deformities in a case of an 8-year-old girl, who was admitted to our hospital with short stature and loss of hair. On examination, the child had the major clinical criteria for HGPS as well as severe alterations in osteogenesis, including craniofacial disproportion, short and sculptured nose, delayed dentition, severe scoliosis, clavicular deformity and asymmetrical and hypoplastic arms and legs. Generalized osteopenia and severe osteolytic compromise in distal extremities were found by X-ray examination. In summary, we report the case of an 8-year-old girl who meets the diagnostic criteria for HGPS with severe involvement of her bones and joints with a review of the current literature and a possible therapeutic approach.- - - - - - - - - - ranking = 1keywords = arteriosclerosis (Clic here for more details about this article) |
2/5. progeria: autopsy report of one case, with a review of pathologic findings reported in the literature.An autopsy case of progeria associated with elastotic degeneration of the skin and preservation of the scalp hair, in a 20-year-old woman, is presented. The pathologic findings were scleroderma-like skin atrophy, elastotic degeneration of the skin, arteriosclerosis, atrophy of the endocrine glands, and acute peritonitis after appendectomy. In the reported cases of progeria, as in Werner's syndrome, no responsible parenchymatous organ has been identified. Rather, connective tissue, widely distributed throughout the entire body, may play an important role. The possible abnormal metabolism of connective tissue in progeria deserves further study.- - - - - - - - - - ranking = 0.5keywords = arteriosclerosis (Clic here for more details about this article) |
3/5. Hutchinson-Gilford progeria syndrome in a 45-year-old man.A 45-year-old man with typical Hutchinson-Gilford progeria syndrome is described. The patient had the characteristic physical findings of this syndrome, such as short stature, "horse-riding" stance, coxa valga, alopecia, micrognathia, craniofacial disproportion, and prominent eyes. He had refractory congestive heart failure due to arteriosclerotic heart disease and hypertension, and he also had arteriosclerosis obliterans. Some immunologic and endocrinologic abnormalities commonly seen in the elderly were present in this patient. On the basis of a review of the literature, this is the first patient with this syndrome who had survived into the fourth decade.- - - - - - - - - - ranking = 0.5keywords = arteriosclerosis (Clic here for more details about this article) |
4/5. progeria with cardiac hypertrophy and review of 12 autopsy cases in the literature.An autopsy of an 11 years 5 months old boy with progeria is presented. Hyaluronuria, low growth rate of skin fibroblasts, decreased number of T-cells in lymphocyte subpopulation, increase of anti dna antibody, and antibody for microsome of thyroid gland were detected clinically. He had suffered an attack of cerebral infarct and died of congestive cardiac failure. Pathologic findings were scleroderma-like skin atrophy, moderate arteriosclerosis of the aorta and great arteries, severely narrowed coronary sclerosis with an extensive subendocardial fibrosis, a large left cerebral infarct with pin-holed stenosis of both internal carotid arteries, cortical atrophy of thymus, and atrophic lymph nodes. The cardiac muscle fibers were slightly hypertrophied and measured 15.5 /- 2.8 microns in diameter. Histologic findings suggest that increasing of collagen in the connective tissue may play an important role in progeria. Further study of metabolic disturbance in the connective tissue of progeria is necessary.- - - - - - - - - - ranking = 0.5keywords = arteriosclerosis (Clic here for more details about this article) |
5/5. serum cholesterol and triglyceride levels in progeria as a model of ageing.Hutchinson-Gilford progeria was observed in two brothers. Their parents, sister and other relatives did not show any signs of this illness. serum total cholesterol and total triglyceride levels were normal in the whole family. The serum high density lipoprotein cholesterol (HDL-C) level of parents was low and that of boys was extremely low. The serum HDL-C level of the healthy sister and other relatives was normal. These findings in homozygous children and heterozygous parents may explain the development of the very early fatal arteriosclerosis described in this disease. The connection between the disorder of the lipid metabolism and progeria can serve as a useful model in the study of the role of lipid metabolism in normal ageing.- - - - - - - - - - ranking = 0.5keywords = arteriosclerosis (Clic here for more details about this article) |