Hutchinson-Gilford progeria syndrome in a 45-year-old man

doi:10.1016/0002-9343(86)90196-8

The American Journal of Medicine

Volume 81, Issue 1, July 1986, Pages 135-138

https://doi.org/10.1016/0002-9343(86)90196-8 Get rights and content

Abstract

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.

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There are more references available in the full text version of this article.

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A reduction in the amount of UV-induced unscheduled DNA synthesis (UDS), and reduced cell survival and host-cell reactivation against UV exposure in Hutchinson-Gilford progeria syndrome cell strains were shown. UV-induced UDS in 4 progeria cell strains was 33–50% of the normal level. A similar reduction in the UV-induced UDS in normal cells was caused by γ-ray irradiation to the cells before UV irradiation. The dose of γ-rays required to cause a reduction in UDS of normal cells to the level of progeria cells was 40 Gy and the reduction was reversible after 2 days. In progeria cells, γ-ray irradiation further reduced UDS with a lower γ-ray dose required than in normal cells, and the reduction was also reversible but with less relative recovery than in normal cells. The presence of a ‘built-in’ defect in progeria cells responsible for the reduced DNA-repair capacity was suggested, and such defect may share a common mechanism with the reduction of UV-induced UDS in normal cells caused by γ-ray irradiation.
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Hutchinson-Gilford progeria syndrome in a 45-year-old man

Abstract

J Pediatr

Lancet

J Invest Dermatol

Progeria: autopsy report of one case, with a review of pathologic findings reported in the literature

J Am Geriatr Soc

Progeria with cardiac hypertrophy and review of 12 autopsy cases in the literature

Acta Pathol Jpn

Enumeration of T lymphocyte subsets by monoclonal antibodies in young and aged humans

J Immunol