Seitelberger's Spastic Amaurotic Axonal Idiocy

The clinical and pathologic findings of a 9½-year-old white boy who suffered from hypoplastic anemia from the ages of 8 to 26 months, and who later developed neurologic manifestations of cerebellar and brain stem dysfunction, are reported. The central nervous system showed a pattern of lesions—deposition of chromolipid pigment in basal nuclei and brain stem, degeneration and gliosis of the dorsal portions of the brain stem and spinal cord, and segmental hyaline swelling of axons, especially in the cerebellum—considered pathognomonic of the condition described by Seitelberger as "spastic amaurotic axonal idiocy." The patient reported is apparently the first male recognized to have this rare familial disease. He also showed severe testicular atrophy, nodular alteration of the adrenal cortex, renal cortical fibrosis and degenerative changes of the renal tubules, as well as deposition, in the cytoplasm of cells of the loops of Henle, of chromolipid pigment similar to that found in the brain. Although the relation of these other lesions to those of the central nervous system can not be established with certainty, the possibility that the tubular pigment deposition has diagnostic significance, and that the condition can be diagnosed by kidney biopsy or examination of urine sediment, is suggested.