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Neuropediatrics 2010; 41(5): 199-208
DOI: 10.1055/s-0030-1269906
Review

© Georg Thieme Verlag KG Stuttgart · New York

Tuberous Sclerosis Complex: Neurological, Renal and Pulmonary Manifestations

D. N. Franz1 , 2 , J. J. Bissler1 , 4 , F. X. McCormack3 , 5
  • 1Department of Pediatrics, University of Cincinnati College of Medicine, Children's Hospital Medical Center, Cincinnati, Ohio, USA
  • 2Department of Neurology, University of Cincinnati College of Medicine, Children's Hospital Medical Center, Cincinnati, Ohio, USA
  • 3Department of Medicine, University of Cincinnati College of Medicine, Children's Hospital Medical Center, Cincinnati, Ohio, USA
  • 4Division of Nephrology, University of Cincinnati College of Medicine, Children's Hospital Medical Center, Cincinnati, Ohio, USA
  • 5Department of Pulmonary and Critical Care Medicine, University of Cincinnati College of Medicine, Children's Hospital Medical Center, Cincinnati, Ohio, USA
Further Information

Publication History

received 24.11.2010

accepted 26.11.2010

Publication Date:
05 January 2011 (online)

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Abstract

Tuberous sclerosis complex (TSC) is an important cause of epilepsy and autism, as well as renal and pulmonary disease in adults and children. Affected individuals are subject to hamartomas in various organ systems which result from constitutive activation of the protein kinase mTOR (mammalian target of rapamycin). The clinical course, prognosis and appropriate therapy for TSC patients are often different from that for individuals with epilepsy, renal tumors, or interstitial lung disease, from other causes. Additionally, TSC serves as a model for other conditions in which the mTOR pathways are also up-regulated. This article reviews the molecular pathophysiology and management of neurological, renal and pulmonary manifestations of the disorder. The use of mTOR inhibitors such as rapamycin and everolimus is discussed and recent clinical trials of these drugs in TSC are reviewed.

Key words

tuberous sclerosis - angiomyolipoma - epilepsy - lymphangioleiomyomatosis

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