[Late amaurotic familial idiocy with curvilinear bodies and finger prints. Report of a case studied using electron...

A case of late amaurotic family idiocy of "curvilinear bodies" and "finger prints" is presented. The patient was a .7 year-old non-Jewish boy with convulsions and mental deterioration. A male sibling died at age 12 with a similar picture and a younger brother is starting also with the same symptoms. Biopsy of the brain disclosed a PAS, Sudan black and oil red O positive granular material in the cytoplasm of a large population of cortical neurons. An electron microscopy study disclosed that the stored lipid was composed of masses of so-called "curvilinear bodies" and "finger prints". The same material was found within the cytoplasm of a ganglion cell as well as in endothelial cells of mucosa of the rectum obtained by biopsy. This new variety of amaurotic family idiocy does not occur in Jewish people and the stored lipid is not a ganglioside. It is emphasized that rectal biopsies, as well as the electronmicroscope are useful tools for a more precise diagnosis of the form of storage disease.