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

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...

A report of two cases of the juvenile form of amaurotic familial idiocy (cerebromacular degeneration).

The cerebral lipidoses are rare diseases, which have few certain links in common beyond the shared facts of disturbed lipid metabolism, progressive mental deterioration coming on early in life, and a heredofamilial pattern of occurrence. In NiemannPick's disease, Gaucher's disease, and xanthomatosis, the lesions of the nervous system are part of a disorder which affects many tissues, though in ...

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

This paper records the occurrence in the brain of an infant aged twelve months of tuberose sclerosis together with nerve cell changes of a type which, until recently, has been considered peculiar to the juvenile or Spielmeyer-Vogt variety of amaurotic idiocy. Pathological coincidences of this sort in the nervous system are rare and with the exception of Ostertag's (1925) description of infantil...

Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome.

THE typical ophthalmoscopic picture of a "cherry-red spot" is only one of the pathognomonic elements of infantile amaurotic idiocy, or Tay-Sachs' lipoidotic ganglioside disease (Danis, Begaux, and Decock, 1957). A similar picture was also observed in Niemann-Pick disease (sphingomyelin lipoidosis disease) in about 60 per cent. of cases (Videbaek, 1949) and even in two cases of Gaucher's cerebro...

Juvenile and late forms of amaurotic idiocy in one family.