[Contribution to the anatomoclinical and genetic study of tuberous sclerosis in infancy (author's transl)]

A case of Bourneville's disease is described, which is unusual because of the absence of clinical symptomatology until death occurred in the ninth month of life. Moreover, the post-mortem examination revealed the presence of cortical plaques of tuberous sclerosis which were in number, size and extension much more pronounced than in any previously published cases. On the basis of extensive topographical preparations of continuous sections taken from two cerebral hemispheres, the author provides an exact spatial representation of the tuberous sclerotic lesions and demonstrates the almost complete integrity of the central grey nuclei and the rhinencephalic complex. From data collected on numerous published infantile cases, in which he records the date of the onset of epilepsy, and, in addition, making use of neuropediatric and electrophysiological studies, he attempts to demonstrate that the appearance of the first neurological symptoms is related to certain stages of the cerebral corticalisation. So far as genetic factors are concerned, the family histroy did not provide any evidence of disease in ancestors, and a clinical examination of the parents did not disclose any stigmata of Bourneville's disease. This case can thus be considered as sporadic, due to a new mutation.