Tuberous sclerosis: a neuropathological and immunohistochemical (PAP) study

Clinical, neuropathological, and immunohistochemical (PAP) findings are reported in a 7 month-old girl with Tuberous sclerosis (TS). Polycystic kidneys and massive cardiomegaly constituted the prominent pathological features. The neuropathology of the syndrome was characterized by Megalencephaly, Subependymal giant cell astrocytoma, Very large protoplasmic astrocytes in Golgi-rapid method preparations of cortical tubers and Glial fibrillary acidic protein (GFAP)-negative giant cells in the subependymal nodules as well as in the cortical tubers. The identity of these giant cells is discussed.