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National Institutes of Health Consensus Conference: Tuberous Sclerosis Complex
Mark H. Hyman, MD;
Vicky H. Whittemore, PhD
Arch Neurol. 2000;57:662-665.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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INTRODUCTION
In July 1998, the National Institutes of Health sponsored a consensus conference of international experts to review the literature on tuberous sclerosis complex (TSC). First described in the 1800s, this multiorgan disease has wide-ranging effects on the body, including the brain, kidneys, eyes, and heart. Tuberous sclerosis affects an estimated 40,000 Americans and approximately 2 million people worldwide.1 The panel provided recommendations on revised diagnostic criteria and surveillance protocols for affected individuals.2 Areas for future research were highlighted.
DIAGNOSTIC CRITERIA
The consensus panel arrived at a revised scheme for TSC diagnostic criteria (Table 1). The revision was based on new information from clinical and molecular genetic studies. For example, in contrast with prior diagnostic criteria,3 lymphangiomyomatosis and renal angiomyolipomas can occur together in patients who do not appear to have TSC.4 The new criteria eliminated any single finding as pathognomonic for TSC.
Table appears in full text version.
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GENETIC UPDATE
SCREENING AND DIAGNOSTIC EVALUATION
RECOMMENDED AREAS OF FUTURE PURSUITS
CONCLUSIONS
From the Division of General Internal Medicine and Health Services Research, Department of Medicine, University of California, Los Angeles (Dr Hyman), and the National Tuberous Sclerosis Association, Landover, Md (Dr Whittemore).
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