Tuberous sclerosis or Bourneville disease: the birth of an eponym

Type of article: ORIGINAL

AUTHORS

J. J. Zarranz
Department of Neurology, Hospital de Cruces, Baracaldo; Department of Neurosciences, Faculty of Medicine, UPV/EHU, Spain.

ABSTRACT

Bourneville brought about groundbreaking reforms in the teaching and practice of medicine and spearheaded many initiatives in the fields of hygiene and public health. His most important contribution was transforming the boys’ ward at Bicêtre, in a dismal state on his appointment in 1879, into a model medical-pedagogical unit aimed at rehabilitating and educating every child housed there –even the ‘idiots’, who until that time had been considered incurable and who were given little if any care or training.

Bourneville did not go down in history, however, for his efforts as a moderniser, but rather for his descriptions of tuberous sclerosis lesions in the brain of one such ‘idiot’ patient. Although his observation and published description of this princeps case could be said to be a fluke, Bourneville and his students studied and published an additional ten cases of tuberous sclerosis in the following years. This is an indicator of his overarching interest in idiocy, from its neuropathological basis to the care and education of affected patients.

This study presents the clinical and anatomical pathology features of cases published by Bourneville himself. The doctor was able to identify neuropathological lesions and renal tumours, but despite the detailed clinical examinations and autopsies of as many as ten cases, he did not detect or at least did not mention any of the other cutaneous or visceral signs of the disease now bearing his name.

KEYWORDS

Bourneville, tuberous sclerosis, idiocy

Neurosciences and History 2015;3(4):136-146