Amaurotic family idiocy, a now well defined clinical syndrome of morbid heredity, consists of idiocy associated with blindness. It results from an endogenous disease process, familial in character and always steadily progressive toward a fatal outcome. Originally, the disease was attributed to arrested cerebral development. Subsequently, it was thought to be a degenerative process involving the ganglion cell layer of the central nervous system. Finally, the disease process has come to be regarded as an expression of an underlying disturbance in the lipoid metabolism of the nerve cell, and a close relation, even to the extent of a common identity, has been postulated between amaurotic family idiocy and other diseases due to disturbances of the lipoid metabolism, such as the Niemann-Pick syndrome and Gaucher's disease.
The clinical entities of infantile amaurotic family idiocy and Niemann-Pick disease are well known and universally accepted. In recent years, excellent clinicopathologic descriptions of amaurotic
ROTHSTEIN JL, WELT S. INFANTILE AMAUROTIC FAMILY IDIOCY: ITS RELATION TO NIEMANN-PICK DISEASE AND OTHER DISTURBANCES OF LIPOID METABOLISM; REPORT OF TWO CASES OF TAY-SACHS DISEASE WITH NECROPSY. Am J Dis Child. 1941;62(4):801–843. doi:10.1001/archpedi.1941.02000160102011
Pediatrics in JAMA: Read the Latest
Customize your JAMA Network experience by selecting one or more topics from the list below.