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Tuberous Sclerosis
Robert H. Wilkins, MD;
Irwin A. Brody, MD
Arch Neurol. 1970;22(5):475.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings. |
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A QUIRK of fate led Désiré Magliore Bourneville (1840 to 1909)1 to discover the disease that now bears his name. In 1879, while substituting for his teacher, L. J. F. Delasiauve, Bourneville attended a child with psychomotor retardation, seizures, and an eruption over the nose and cheeks. After the patient's death from pneumonia, Bourneville found peculiar firm enlargements in the cerebral convolutions, which led him to call the disease tuberous sclerosis.
If Bourneville had procrastinated in reporting this case, his disease would not have been "new." Simultaneously and independently, Hartdegen2 described the same condition in a newborn in Germany.
In addition to the cerebral lesions, Bourneville found several small renal tumors in his patient. However, only after he and other physicians reported additional cases did it become apparent that tuberous sclerosis is a dysgenetic syndrome, frequently familial, involving many organ systems throughout the body.3-7
The development of
. . . [Full Text PDF of this Article]
Author Affiliations
Durham, NC
From the Divisions of Neurosurgery and Neurology, Duke University Medical Center, and the Durham Veterans Administration Hospital, Durham, NC.
Footnotes
Submitted for publication Feb 3, 1970; accepted Feb 4.
Reprint requests to Division of Neurosurgery, Duke University Medical Center, Durham, NC 27706 (Dr. Wilkins).
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