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Tuberous sclerosis complex: from basic science to clinical phenotypes
  1. F O’Callaghan

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Edited by Paolo Curatolo. Cambridge: Cambridge University Press, 2003. £55.00 (hardback), pp 301. ISBN 1 898 68339 5

Tuberous sclerosis has always had the capacity to confuse clinicians. Friedrich von Recklinghausen confused it with neurofibromatosis, when on 25 March 1862 he presented a case to the Obstetrical Society of Berlin. The case he described was of a young infant who had died soon after childbirth and who was discovered on postmortem examination to have multiple cardiac myomata in the ventricular walls and a “great number of scleroses” in the brain. It was a French physician, Desire Magloire Bourneville, a pupil of Charcot, who has won the plaudits for correctly appreciating that tuberous sclerosis was a separate disease. In 1879 he described the case of a 15 year old girl who died at the Salpetriere in Paris. She had suffered from epilepsy and severe learning difficulties for most of her life and was afflicted with a disfiguring vesicular-papular eruption on her face. An autopsy revealed that she had …

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