Nerve-Cell Swelling of the Juvenile Amaurotic Family Idiocy Type: Associated with Tuberose Sclerosis in an Infant Aged Twelve Months.

A Congenital Form of Amaurotic Family Idiocy.

SINCE the original description of Tay-Sach's disease in the eighties of the last century a group of allied nervous disorders has become recognized, the common pathological feature of which is a ubiquitous distention of the nerve cells with granules of a lipoid nature. Apart from a few anomalous forms it is customary to classify these amaurotic family idiocies according to the time of onset of t...

Arrested Cerebellar Development: a Type of Cerebellar Degeneration in Amaurotic Idiocy.

This paper reports on four cases of a specific type of cerebellar degeneration which suggests an arrest of cerebellar development at an early foetal stage. Histochemical and silver stain studies were necessary to demonstrate some of the more characteristic features which strikingly distinguished this type of degeneration from the granular layer type of cerebellar degeneration or the common type...

Juvenile and late forms of amaurotic idiocy in one family.

Retinal Neuropathology of Late Infantile Amaurotic Idiocy.

THE retinal histopathology of amaurotic idiocies, as seen in sections stained with routine technique, as well as some of the histochemical changes are relatively well known (Holmes and Paton, 1925; Givner and Roisin, 1944; MacMillan, 1948). Good knowledge of the neuropathology, however, in this group of diseases is largely limited to the brain (Spielmeyer, 1906). To demonstrate the changes of t...

The Thalamic Pathology of Amaurotic Famiijy Idiocy

Most of our knowledge of the human thalamus has evolved from experimental work on animals and from the study of focal lesions in the human brain. Strangely enough, not much progress has been made in the investigation of the pathology of the thalamus. While the anatomist and the physiologist, in studying the thalamus, are aware of the fact that they are dealing with a combination of different nu...