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Genetics of Tuberous Sclerosis Medication

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Luis O Rohena, MD  more...
 
Updated: Mar 27, 2015
 

Medication Summary

Medical care is aimed at seizure control using various anticonvulsants. Future prospects are exciting. For example, everolimus appears to be of value in treating the subependymal giant-cell astrocytomas, with a documented reduction in tumor volume, decreased hydrocephalus and intracranial pressure, and a decrease in seizure frequency; this may be a better option than neurosurgery.[41, 40, 42] It also appears to have a favorable effect on renal angiomyolipoma in these patients.[47] Use of mammalian target of rapamycin inhibitors as effective treatment of various aspects of tuberous sclerosis complex has been stressed.[48] However, adverse events may occur, the commonest with everolimus being infections; although such infections are rarely serious, one patient developed grade IV pleuropneumonia and Streptococcus pneumoniae sepsis, while a second patient died after developing Escherichia coli sepsis.[49]

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Antineoplastic, Mtor Kinase Inhibitor

Class Summary

Immunosuppressant, which forms an inhibitory complex with the immunophilin FKBP12, which binds to and inhibits the ability of mTOR to phosphorylate downstream substrates, such as the S6Ks and 4EBPs.

Everolimus (Afinitor)

 

Rapamycin-derivative kinase inhibitor. Reduces cell proliferation and angiogenesis by inhibition of mTOR pathway. Indicated for subependymal giant cell astrocytoma (SEGA) associated with TS that cannot be treated with surgery.

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Anticonvulsant Agents

Class Summary

These agents are used to prevent seizures and to terminate clinical and electrical seizure activity. Effective management requires a detailed and accurate classification of seizure types. The goal of treatment is monotherapy, although multidrug therapy is sometimes needed in patients with refractory seizures.

Carbamazepine (Tegretol)

 

Useful in the treatment of partial and generalized tonic-clonic seizures. Administer a low dose initially, with gradual increases as needed for clinical effect. Therapeutic serum concentration is 4-12 mcg/mL.

Valproic acid (Depakene, Depakote)

 

Useful in the treatment of all seizure types. Although mechanism of action is not established, activity may be related to increased brain levels of GABA or enhanced GABA action. Valproate may potentiate postsynaptic GABA responses, affect potassium channel, or have a direct membrane-stabilizing effect. Therapeutic serum concentration is 50-100 mcg/mL.

Lamotrigine (Lamictal)

 

Useful in the treatment of partial seizures or secondarily generalized seizures. Dose depends on use as monotherapy or as an add-on agent. Dose must be increased slowly.

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Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Coauthor(s)

Robert Pedersen, MD Chief, Child Neurology, Tripler Army Medical Center; Clinical Professor, Pediatrics and Psychiatry, University of Hawaii, John A Burns School of Medicine

Robert Pedersen, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, Child Neurology Society

Disclosure: Nothing to disclose.

Sergiusz Jozwiak, MD, PhD Professor and Head of Pediatric Neurology, Warsaw Medical University, Poland

Sergiusz Jozwiak, MD, PhD is a member of the following medical societies: Sigma Xi

Disclosure: Received honoraria from Novartis for speaking and teaching.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

Erawati V Bawle, MD, FAAP, FACMG Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Christine Johnson, MD, to the development and writing of this article.

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Facial angiofibroma, previously termed adenoma sebaceum, in a patient with tuberous sclerosis complex (TSC).
Forehead plaque in a patient with tuberous sclerosis complex (TSC). The presence of either a forehead plaque or a facial angiofibroma constitutes one of the major diagnostic criteria for TSC.
Ash-leaf spots are hypomelanotic lesions that are observed more easily with the use of a Wood lamp.
A shagreen patch is a connective tissue hamartoma with a leathery texture and is found most commonly in the lower back region.
Confetti skin lesions are hypomelanotic lesions that cluster and appear reticulated.
MRI in a patient with tuberous sclerosis complex (TSC) demonstrates the presence of a tuber and subependymal nodules.
Periungual fibroma on the thumb of a patient with tuberous sclerosis complex (TSC).
 
 
 
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