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 Citing Articles via Scopus Google Scholar Articles by Roach, E.S. Articles by Northrup, H. Search for Related Content PubMed PubMed Citation Articles by Roach, E.S. Articles by Northrup, H. Social Bookmarking                         What's this?

Tuberous Sclerosis Consensus Conference: Recommendations for Diagnostic Evaluation

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

Francis J. DiMario, MD

Division of Pediatric Neurology, University of Connecticut at Connecticut Children's Medical Center Hartford, CT

Raymond S. Kandt, MD

Johnson Neurological Clinic High Point, NC

Hope Northrup, MD

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

At the recent Tuberous Sclerosis Consensus Conference, a subcommittee proposed recommendations to guide the rational use of diagnostic studies in patients with tuberous sclerosis complex. Recommendations were made for diagnostic evaluation at the time of diagnosis, when testing helps both to establish the diagnosis and to identify potential complications. Additional guidelines were proposed for the ongoing surveillance of established patients to detect later complications of tuberous sclerosis complex. In the absence of comprehensive population studies to govern the use of diagnostic studies in individuals with tuberous sclerosis complex, the panel developed guidelines based on the disorder's natural history, concentrating on complications that are common, clinically significant, and more easily managed when found early. Finally, the group made suggestions for the use of diagnostic tests to identify family members who have tuberous sclerosis complex. Although these recommendations should standardize and improve our use of diagnostic studies in individuals with tuberous sclerosis complex, the clinical approach in a given patient must remain flexible enough to meet the needs of individual patients and families. (J Child Neurol 1999;14:401-407).

Journal of Child Neurology, Vol. 14, No. 6, 401-407 (1999)
DOI: 10.1177/088307389901400610


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

This article has been cited by other articles:

				G. Ramantani, P. Niggemann, G. Hahn, A. Nake, R. Fahsold, and M. A. Lee-Kirsch Unusual Radiological Presentation of Tuberous Sclerosis Complex With Leptomeningeal Angiomatosis Associated With a Hypomorphic Mutation in the TSC2 Gene J Child Neurol, March 1, 2009; 24(3): 333 - 337. [Abstract] [PDF]

				D. Dworakowska and A. B Grossman Are neuroendocrine tumours a feature of tuberous sclerosis? A systematic review Endocr. Relat. Cancer, March 1, 2009; 16(1): 45 - 58. [Abstract] [Full Text] [PDF]

				D N Franz, P J de Vries, and P B Crino Giant cell astrocytomas in tuberous sclerosis complex Arch. Dis. Child., January 1, 2009; 94(1): 75 - 76. [Full Text] [PDF]

				F J K O'Callaghan, C N Martyn, S Renowden, M Noakes, D Presdee, and J P Osborne Subependymal nodules, giant cell astrocytomas and the tuberous sclerosis complex: a population-based study Arch. Dis. Child., September 1, 2008; 93(9): 751 - 754. [Abstract] [Full Text] [PDF]

				S. R. Johnson Lymphangioleiomyomatosis. Eur. Respir. J., May 1, 2006; 27(5): 1056 - 1065. [Abstract] [Full Text] [PDF]

				S. Jozwiak, D. Domanska-Pakiela, D. J. Kwiatkowski, and K. Kotulska Multiple Cardiac Rhabdomyomas as a Sole Symptom of Tuberous Sclerosis Complex: Case Report With Molecular Confirmation J Child Neurol, December 1, 2005; 20(12): 988 - 989. [Abstract] [PDF]

				K. Kagawa, D. C. Chugani, E. Asano, C. Juhasz, O. Muzik, A. Shah, J. Shah, S. Sood, W. J. Kupsky, T. J. Mangner, et al. Epilepsy Surgery Outcome in Children With Tuberous Sclerosis Complex Evaluated With {alpha}-[11C]Methyl-L-Tryptophan Positron Emission Tomography (PET) J Child Neurol, May 1, 2005; 20(5): 429 - 438. [Abstract] [PDF]

				D. Neal Franz Non-Neurologic Manifestations of Tuberous Sclerosis Complex J Child Neurol, September 1, 2004; 19(9): 690 - 698. [Abstract] [PDF]

				K Mayer, M Goedbloed, K van Zijl, M Nellist, and H-D Rott Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis J. Med. Genet., May 1, 2004; 41(5): e64 - e64. [Full Text] [PDF]

				M. T. Mackay, L. E. Becker, S. H. Chuang, H. Otsubo, N. A. Chuang, J. Rutka, B. Ben-Zeev, O. C. Snead III, and S. K. Weiss Malformations of cortical development with balloon cells: Clinical and radiologic correlates Neurology, February 25, 2003; 60(4): 580 - 587. [Abstract] [Full Text] [PDF]

				J. Moss, R. DeCastro, N. J. Patronas, and A. Taveira-DaSilva Meningiomas in Lymphangioleiomyomatosis JAMA, October 17, 2001; 286(15): 1879 - 1881. [Abstract] [Full Text] [PDF]