Abstract
Ultrastructural observations on biopsied skin, rectal mucosa and peripheral blood cells of a 6-year-old boy with late infantile ceroid-lipofuscinosis revealed the following results.
1) Curvilinear profiles (CLPs) enclosed by a single membrane were observed in various tissues and no other type of inclusion was observed.
2) CLPs were seen in the cytoplasm of both lymphocytes and neutrophils in peripheral blood. In biopsied skin, CLPs were located dominantly in epithelial cells of sweat glands and in other various cells, such as endothelial cells of blood vessels, axons and smooth muscle cells. In biopsied rectal mucosa, CLPs were seen also in nerve cells, Schwann cells and rectal mucosal cells.
3) Skin biopsy is the most useful technique for the diagnosis of ceroid-lipofuscinosis because it is easier and safer than biopsy of rectal mucosa and provides more abundant informations than those of blood cells.
