The case reported, known as lipid storage myopathy, occurred in a 20 year old woman. The first symptoms between the age of 14 and 16 yr. A complete autopsy was carried out. The entire musculature was involved. There was fatty infiltration of the myocardium as well as marked fatty degeneration of the liver and kidneys. Histological and histochemical examination revealed an accumulation of triglycerides, distributed throughout almost all the organs, this being confirmed by chemical examinations. The latter did not, however, show any changes in phospho glyco sulpho lipid, cholesterol or cholesterol content. Gas chromatography of the total free fatty acids revealed an increase in short chain fatty acids. The authors stress the generalized nature of the pathological process leading to the accumulation of triglycerides, in a disease which up to present time had been considered to be a myopathy, and therefore propose the name generalised triglyceridosis of generalised triglyceride lipidosis.
|Translated title of the contribution||Generalized triglyceride lipidosis (triglyceridosis). First clinico pathological report|
|Number of pages||16|
|Publication status||Published - 1975|
ASJC Scopus subject areas
- Clinical Neurology