Neuropathic type of Gaucher's disease in a Mexican boy. Electron microscopy studies and considerations on the current concept of this disease.

Case report of a 32 month old boy with Gaucher's disease. He had an evolution of 22 months with neurological symptoms. The spleen was removed and was studied with light and electron microscopy. The study disclosed the typical morphological features of Gaucher's cells. A correlation was established between symptomatology, radiological findings and anatomic alterations in post mortem studies. An interesting fact is the absence of the disease in other family members and therefore this case may represent an example of a recent mutation. General considerations on the current concept of this disease are also discussed.

[Late amaurotic familial idiocy with curvilinear bodies and finger prints. Report of a case studied using electron microscopy]. / Idiocia amaurótica familiar infantil tardía con inclusiones de "cuerpos curvilíneos" y "huellas digitales" comunicación de un caso estudiado con microscopio electrónico

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.