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Interdisciplinary Protocol for Patients with TSC

Principal Investigator:

The major features of Tuberous Sclerosis Complex (TSC) are abnormalities of the brain –cortical tubers, subependymal nodules and subependymal giant cell astrocytomas; skin –hypomelanotic macules, shagreen patches, facial angiofibromas, and ungual fibromas; kidneys – renal hamartomas or angiomyolipomas; heart – cardiac rhabdomyomas; and lungs – pulmonary lymphangioleiomyomatosis. Minor features include dental pits, rectal polyps, bone cysts, white matter radial migration lines, gingival fibromas, nonrenal hamartomas, retinal achromatic patches, “confetti” skin lesions and multiple renal cysts.

Although, the mechanism for tumor formation is known, specific mechanisms for other symptoms such as cognitive and developmental delays are still being investigated. Our research question is to determine whether or not there are specific aspects of the clinical phenotype that may explain the variability.

It is known that there is a wide variation among the cognitive behavioral and development phenotypes of individuals with TSC. Some individuals have no evidence of limitations while the severity of these phenotypes in other individuals has led to lifelong institutionalization.

Our aim in this research study is to use the data gathered for clinical purposes in the existing database from our Tuberous Sclerosis Clinic to examine phenotypic relationships that may help to further our knowledge about risk factors for severe neurodevelopmental outcomes.

We are requesting permission from our patient population to add their clinical data to our research database for further analysis.

Kennedy Krieger Institute Announces Retirement of President and CEO

Dr. Gary W. GoldsteinThe Institute’s board of directors is conducting a national search and is expected to name a new CEO in the coming months.
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