A Second Case in the Same Family of Congenital Familial Cerebral Lipoidosis Resembling Amaurotic Family Idiocy

Abstract

We owe to Norman and Wood (1941) the observa- tion that a disorder resembling amaurotic familial idiocy may originate during the prenatal period and be fully established at birth. Although the importance of this condition was appreciated by Globus (1942), no comparable cases have been reported sub- sequently. On the other hand, the question of cerebral lipoidosis in early infancy has been fully investigated by In none of the cases reviewed by those two authors, either of the neurological form of Gaucher's disease (30) or of Niemann-Pick disease (73), was the condition undoubtedly present at birth.