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At least 217 records · Page 12Linked to original sources
PubMed1979

A quantitative study of lipofuscin accumulation with age in normals and individuals with Down's syndrome, phenylketonuria, progeria and transneuronal atrophy.

The amount of lipofuscin in neurons of two brainstem nuclei, the inferior olivary nucleus (ION) and the lateral geniculate nucleus (LGN), was measured in the brains of 1 progeric, 2 phenylketonuric, 5 Down's syndrome and 13 normal individuals. Aggregations of lipofuscin granules in cresyl violet stained sections were examined with epi-fluorescent illumination, drawn with a camera lucida, and measured with a planimeter. The proportion of lipofuscin to cell size was a linear function of age over the age range examined, 14 to 92 years. There was no difference between progeric, phenylketonuric, Down's and normal brains in the amount of lipofuscin accumulated with age, nor was there a marked within-individual correlation between amounts of lipofuscin in the two nuclei when these amounts were subtracted from the regression line values to control for age. The proportion of lipofuscin to cell size was the same in neurons of the LGN showing transneuronal atrophy in response to right eye pathology as it was in non-atrophic neurons.

Adolescent↗
PubMed2005

Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.

UNLABELLED: We present a 7-week-old male infant with pseudoscleroderma as a primary manifestation of the Hutchinson-Gilford syndrome of premature aging. He had suffered intra-uterine growth retardation; micrognathism and a cleft palate were evident at birth. He presented with feeding difficulties and severe, diffuse scleroderma-like lesions, a faint peri-oral cyanosis and prominent scalp veins. With time, special facial features became more and more apparent: frontal bossing, prominent eyes, thin and fine nose and lips, microstomia, low-set ears and occipito-parietal alopecia. Histopathology of the skin showed an increased density and thickness of collagen in the dermis and hypodermis. Within the 1st year of life, typical skeletal characteristics were observed. The diagnosis of Hutchinson-Gilford syndrome was confirmed by analysis of the lamin A gene, revealing a heterozygous c.1824C > T (G608G) mutation. CONCLUSION: Hutchinson-Gilford syndrome is an extremely rare disorder of which the full clinical spectrum becomes evident with time. Sclerodermatous changes in the infant can be the first manifestation.

Alopecia↗