Sudanophilic leukodystrophy with large amounts of cholesterol ester

Abstract

The patient was a 31-yr-old white male who developed behavioral abnormalities 6 months prior to death. He became progressively lethargic, socially withdrawn and somnolent. Over the 2 months prior to death his memory worsened, he exhibited an increasingly stumbling gait, and he developed multiple cranial nerve deficits. he became comatose, developed respiratory insufficiency, and died. The brain had gross and microscopic appearances consistent with a sudanophilic leukodystrophy. No specific intracellular inclusions were seen with electron microscopy. Water, total lipid, neutral lipid, phospholipid, cholesterol, and cholesterol ester contents of cerebral cortex were all normal. Levels of galactolipid and phospholipid were much lower than normal in affected white matter, but it contained almost three times the normal amount of neutral lipid. Cholesterol esters made up 75% of the total sterol in white matter, but very long chain fatty acids were not seen in this fraction. This case probably represents a type of sudanophilic leukodystrophy in which cholesterol esters accumulate in white matter to degrees not previously reported for other conditions.