Fine needle aspiration cytology of Tay-Sachs disease. A case report.

The fine needle aspiration cytology (FNAC) brain findings on a 6-year-old with Tay-Sachs disease are presented. These findings were compared with the FNAC findings on identical areas of a normal brain. Copious material was obtained from both cases. Marked loss of neurons, prominent gliosis, reactive microglia and scattered macrophages were hallmarks of Tay-Sachs disease. The findings were the same as those observed in the histopathology of Tay-Sachs disease. The normal brain, as expected, showed no such changes. It is concluded that FNAC has a great potential for diagnosis and follow-up of Tay-Sachs disease and other nonneoplastic neurologic diseases.