No abstract

The authors report the case of a 70-year-old man who developed intracranial hypertension and lef-arm paresis 2 years after irradiation for the right preauricular basal cell epithelioma. Angiography disclosed a right temporal lobe mass and the histopathological diagnosis was late postirradiation necrosis of the brain. Postoperatively, dexamethasone was given in increasing doses up to 60 mg/day for control of cerebral edema. The patient died of gastrointestinal bleeding on the 60th postoperative day.

Biochemical, histochemical and ultrastructural investigations during the 1960's lead to the subdivision of amaurotic familial idiocy (AFI) into two distinct groups of nosological entities: the gangliosidoses and the neuronal ceroid-lipofuscinoses 28 .In the gangliosidoses, the stored lipid is a ganglioside and its accumulation depends on well characterized enzymatic defects in the catabolism of

Neuronal ceroid-lipofuscinosis (NCL) is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI). Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease), in which intraneuronal accumulation of gangliosides (sphingolipids) is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky) type and a brother and a sister of the juvenile (Spielmeyer-Sjögren) type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.