This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Roach, E. S. Articles by Sparagana, S. P. Search for Related Content PubMed PubMed Citation Articles by Roach, E. S. Articles by Sparagana, S. P. Social Bookmarking                   What's this?

Diagnosis of Tuberous Sclerosis Complex

Department of Neurology, Wake Forest University School of Medicine, Winston-Salem, NC, sroach{at}wfubmc.edu

Steven P. Sparagana, MD

Department of Neurology, Southwestern Medical Center and Texas Scottish Rite Hospital, Dallas, TX

Tuberous sclerosis complex is a dominantly inherited disorder affecting multiple organs; because of its phenotypic variability, the diagnosis of tuberous sclerosis complex can be difficult in the young or in individuals with subtle findings. Recently revised consensus diagnostic criteria for tuberous sclerosis complex reflect an improved understanding of its clinical manifestations and its genetic and molecular mechanisms. The diagnostic criteria are based on the premise that there are probably no truly pathognomonic clinical signs for tuberous sclerosis complex; signs that were once regarded as specific occur as isolated findings in individuals with no other clinical or genetic evidence of tuberous sclerosis complex. Consequently, the revised criteria require tuberous sclerosis complex—associated lesions of two or more organ systems or at least two dissimilar lesions of the same organ to confirm the diagnosis. The addition of DNA testing complements clinical diagnosis and allows more precise genetic counseling and, in some individuals, prenatal diagnosis. Nevertheless, the 15% false-negative rate for DNA testing and the occurrence of germline mosaicism in about 2% of individuals with tuberous sclerosis complex make it difficult to exclude the diagnosis of tuberous sclerosis complex in family members. (J Child Neurol 2004; 19:643-649).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

				J. J. Bissler, F. X. McCormack, L. R. Young, J. M. Elwing, G. Chuck, J. M. Leonard, V. J. Schmithorst, T. Laor, A. S. Brody, J. Bean, et al. Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis N. Engl. J. Med., January 10, 2008; 358(2): 140 - 151. [Abstract] [Full Text] [PDF]

				D. A. Lyczkowski, K. D. Conant, M. B. Pulsifer, D. Y. Jarrett, P. E. Grant, D. J. Kwiatkowski, and E. A. Thiele Intrafamilial Phenotypic Variability in Tuberous Sclerosis Complex J Child Neurol, December 1, 2007; 22(12): 1348 - 1355. [Abstract] [PDF]

				M. P. Guerra, F. Cavalleri, N. Migone, L. Lugli, O. Delalande, G. B. Cavazzuti, and F. Ferrari Intractable Epilepsy in Hemimegalencephaly and Tuberous Sclerosis Complex J Child Neurol, January 1, 2007; 22(1): 80 - 84. [Abstract] [PDF]

				A. van Baalen, U. Stephani, and O. Jansen Confirmation of Tuberous Sclerosis Complex by High-Resolution Ultrasonography J Child Neurol, September 1, 2006; 21(9): 741 - 742. [PDF]

				M. Quigg and J. Q. Miller Clinical findings of the phakomatoses: Tuberous sclerosis Neurology, November 22, 2005; 65(10): E22 - E23. [Full Text] [PDF]

				E.S. Roach Seeing With New Eyes: Using Positron Emission Tomography (PET) to Identify Epileptogenic Tubers J Child Neurol, May 1, 2005; 20(5): 399 - 399. [PDF]

				P. Prather and P. J. de Vries Behavioral and Cognitive Aspects of Tuberous Sclerosis Complex J Child Neurol, September 1, 2004; 19(9): 666 - 674. [Abstract] [PDF]