IN-VIVO DIAGNOSIS OF KUFS-DISEASE BY EXTRACEREBRAL BIOPSIES

In almost all of the earlier reported cases of Kufs' disease, the adul t form of ceroid lipofuscinosis, the diagnosis was ascertained by cere bral tissue examination, while peripheral biopsy examination revealed an apparent poor diffusion of specific lipofuscinic deposits, the fing er print profiles (FPs). We report the ultrastructural data from skin, muscle and rectal biopsy specimens from two siblings, both still livi ng, who present clinical features of Kufs' disease. We observed the pr esence of FPs in locations that differ from the previous classic repor ts. Our results emphasize the value of extracerebral biopsies for the diagnosis of Kufs' disease in vivo, and suggest some physiopathologica l assumptions based on vascular wall involvement.