Tuberous sclerosis complex and its founders
- 1Department of Child Neurology, University Medical Center, Utrecht, The Netherlands
- 2Department of Clinical Neurophysiology, University Medical Center, Utrecht, The Netherlands
- Correspondence to: F E Jansen Department of Neurology, C03230, UMC, PO Box 85500, 3508 GA Utrecht, The Netherlands;
Although the names of Bourneville and Pringle are associated with the disease they were not the first who reported patients with signs later defined as the diagnostic criteria. Reports start in the 19th century and are based on descriptions of clinical and pathological findings.
The characteristic skin lesions were mentioned for the first time in 1835. Rayer’s atlas on skin diseases illustrates the facial “végétations vasculaires”. These lesions were renamed adenoma sebaceum by Pringle, who is remembered today for his description of a patient with adenoma sebaceum.1 He also mentioned the associated mental subnormality.
In 1862 Von Recklinghausen, primarily associated with neurofibromatosis, first mentioned the cerebral involvement. On autopsy of a newborn that died a few minutes after birth, he found cardiac myomata and sclerotic brain lesions, but he did not make the association between the two pathologies. Description of the cerebral pathology and neurological signs is credited, however, to Bourneville. He proposed the term sclérose tubéreuse des circonvolutions cérébrales to characterise the large islets …