Summary Changes typical of tuberous sclerosis were observed in a 28–year‐old woman and her one‐day‐old son. The clinical signs in the woman were skin lesions, epileptic fits, and low intelligence. In the boy the diagnosis was based on postmortem findings, notably changes in the heart and brain. The diagnostic criteria of this disease are discussed. No chromosomal abnormalities were found either in the normal skin nor in the fibroma on the nail‐bed of the mother.

No abstract