Amaurotic Family Idiocy

AMAUROTIC FAMILY IDIOCY, a hereditary-degenerative disease of the nervous system, clinically divided into several forms, united, in view of common signs, into one group. These signs are: 1) paralysis of the limbs, 2) decrease in visual acuity to complete blindness due to changes in the fundus of the eye, 3) dementia, 4) marasmus, 5) progressive development of the disease, 6) familial nature of the affliction, 7) homogeneity of the pathological-anatomical picture. The infantile form, properly Amaurotic Family Idiocy (Tay-Sachs, Schaffer), is distinguished by the most typical and stereotypically recurring clinical picture. The onset of the disease is in the second half of the first year of life. A normally developing child becomes apathetic, ceases to hold up their head, and spastic paralyses appear in the limbs. A rapid decline in vision to complete blindness develops; on the fundus of the eye, there are characteristic changes in the form of the appearance of a cherry-red spot with a grayish rim in the area of the macula lutea. Also, dementia and general marasmus increase with unstoppable speed; the patient perishes by the end of the second year of life. With surprising constancy, the familial nature of this disease and racial predisposition are noted: this disease is encountered almost exclusively in Jewish families. The etiology of the disease has not yet been clarified. Anatomical changes in all three forms consist of a peculiar cystic degeneration of nerve cells in the entire central nervous system, in the sympathetic ganglia, and in the retina (see figure). The nerve cells are swollen and filled with a granular mass. On the axis-cylinder processes, there are bulbous swellings with granular contents. Intracellular fibrils disappear and turn into detritus. This granular mass consists of a pre-lipoid substance, which turns into fat, absorbed by granular cells. Myelin fibers stop in their development; their decay is observed. In the glial elements, there are changes of a degenerative and proliferative nature. There are no changes in the mesoderm. The juvenile form (Spielmeyer-Vogt) is observed at the end of the first decade and the beginning of the second; in clinical terms, it is heterogeneous. It is encountered not only in Jewish families; there are no changes in the macula lutea; on the fundus of the eye, there is atrophy of the optic nerves and pigmentary retinitis; along with spastic diplegia in Amaurotic Family Idiocy, ataxia and other cerebellar phenomena are sometimes observed. With progressive development, the course of the juvenile

Changes in nerve cells in amaurotic

idiocy (staining of neurofibrils according to Bielschowsky). The form is, however, not as rapid as in the infantile form, and patients perish after several years from accidental diseases. The late form was recently described by Kufs in adults; here, the clinical features of the infantile form are expressed even less. The juvenile and late forms appear to be transitional from the typical infantile form to other hereditary-degenerative diseases: spastic diplegia, Friedreich's disease, hereditary atrophy of the optic nerves, etc. At the basis of the disease lies a primary lesion of the hyaloplasm of the nerve cells (Schaffer); according to other authors (Westphal, Sioli), it is an insufficiency of the adrenal glands.