Ultrastructure and visceral distribution of lipopigments in infantile neuronal ceroid-lipofuscinosis

Summary After an uneventful psychomotor development, a Jordanian boy developed increasing blindness, deafness, myoclonic jerks, tetraspasticity and dementia beginning at the age of 8 months and finally resulting in coma during which he died at the age of 3 years and 4 months. Two of his older siblings had possibly suffered from the same disease, but one of them had died in the Near East without adequate diagnosis. Autopsy revealed infantile neuronal ceroid-lipofuscinosis (NCL). Lipopigments showing typical auto fluorescence and PAS staining granules were abundant in the markedly atrophic brain and numerous visceral organs, especially in cells of the reticulo-endothelial system, intestinal tunica propria, the bone marrow and hepatic von Kupffer cells. Ubiquitous accumulation of these NCL-typical lipopigments were found in adventitial mesenchymal cells of small vessels, particularly in lungs, liver and lymphatic organs. Lipopigments had accreted to a lesser degree in podocytes of renal glomerula and Sertoli cells, and in striated muscle fibers only around nuclei. Lymphocytes, smooth muscle cells and stratified epithelial cells did not contain lipopigments. The ultrastructure of the membrane-surrounded osmiophilic cytosomes consisted predominantly of finely granular lipofuscin although short membranous profiles were occasionally embedded within this granular matrix. These morphological findings emphasize the diagnostic importance of lymph node, rectal and bone marrow biopsies and, to a lesser degree, of liver biopsy in infantile neuronal ceroid-lipofuscinosis. The nosology of infantile NCL, independent of the ethnic background, was further clarified by our studies on ultrastructure and visceral distribution of these lipopigments. Morphological damage to parenchymal cells of visceral organs, contrary to the widespread loss of cortical neurons in the brain could not be demonstrated.