Two Cases of Juvenile Type Generalized Ceroid‐Lipofuscinosis: An Ultrastructural Study of Storage Material

The clinical course, distribution and morphology of the characteristic inclusions in two cases of generalized ceroid-lipofuscinosis of juvenile type were investigated. The first case was a Japanese man who died aged 21. He developed visual disturbances at the age of 6 years, and became blind within a year. Epileptic seizures and dementia progressed from the age of 12. The second case was a Japanese woman who also died aged 21 years. She developed dementia, convulsions and visual disturbances at the age of 6 years and progressed gradually. She became almost completely blind at the age of 14 years. In both of the cases, the autopsy revealed diffuse atrophy of the brain. The histology showed numerous lipofuscin-like granules in the swollen cytoplasm of nerve cells and astrocytes. The storage materials revealed four distinct ultrastructural profiles as follows; 1) multilamellar body (MLB), 2) curvilinear body (CB), 3) crystalloid profile (CP), 4) finger print profile (FPP). The distribution of these storage materials in both central and peripheral nervous system and in various tissue of the body was studied systematically and shown in a table.