[Generalised triglyceride lipidosis (triglyceridosis). 1st anatomo-clinical report]

The case reported, known under the name of Lipid Storage Myopathy, occurred in a twenty year old woman. The first symptoms occurred between the age of 14 and 16 years. 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.