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Journal of Child Neurology
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Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria

E.S. Roach, MD

Division of Child Neurology, University of Texas Southwestern Medical Center, Dallas, TX

Manuel R. Gomez, MD

Department of Neurology, Mayo Clinic, Rochester, MN

Hope Northrup, MD

Department of Pediatrics, University of Texas Medical School-Houston, Houston, TX

At the recent tuberous sclerosis complex consensus conference, the clinical diagnostic criteria for tuberous sclerosis complex were simplified and revised to reflect both new clinical information about tuberous sclerosis complex and an improved understanding of the disorder derived from molecular genetic studies. Based on this new information, some clinical signs once regarded as pathognomonic for tuberous sclerosis complex are now known to be less specific. No single sign is present in all affected patients, and there is no proof that any single clinical or radiographic sign is absolutely specific for tuberous sclerosis complex. Accordingly, the clinical and radiographic features of tuberous sclerosis complex have now been divided into major and minor categories based on the apparent degree of specificity for tuberous sclerosis complex of each feature. A definitive diagnosis of tuberous sclerosis complex now requires two or more distinct types of lesions, rather than multiple lesions of the same type in the same organ system. Although diagnosis on purely clinical grounds can continue to be difficult in a few patients, there should be little doubt about the diagnosis for those individuals who fulfill these strict criteria. Couples with more than one child with tuberous sclerosis complex, no extended family history, and no clinical features of tuberous sclerosis complex are more likely to have germline mosaicism for tuberous sclerosis than nonexpression of the mutation. Germline mosaicism, while fortunately rare, will not be suspected from either diagnostic criteria or molecular testing until a couple has multiple affected children. Genetic counseling for families with one affected child should include a small (1% to 2%) possibility of recurrence, even for parents who have no evidence of tuberous sclerosis complex after a thorough diagnostic evaluation. (J Child Neurol 1998;13:624-628).

Journal of Child Neurology, Vol. 13, No. 12, 624-628 (1998)
DOI: 10.1177/088307389801301206
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 NeurologyHome page
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New developments in the neurobiology of the tuberous sclerosis complex
Neurology, October 22, 1999; 53(7): 1384 - 1384.
[Abstract] [Full Text] [PDF]

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 J. Biol. Chem.Home page
L. D. Aicher, J. S. Campbell, and R. S. Yeung
Tuberin Phosphorylation Regulates Its Interaction with Hamartin. TWO PROTEINS INVOLVED IN TUBEROUS SCLEROSIS
J. Biol. Chem., June 8, 2001; 276(24): 21017 - 21021.
[Abstract] [Full Text] [PDF]

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 Proc. Natl. Acad. Sci. USAHome page
T. J. Jonasdottir, C. S. Mellersh, L. Moe, R. Heggebo, H. Gamlem, E. A. Ostrander, and F. Lingaas
Genetic mapping of a naturally occurring hereditary renal cancer syndrome in dogs
PNAS, April 11, 2000; 97(8): 4132 - 4137.
[Abstract] [Full Text] [PDF]