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Genetics of Tuberous Sclerosis Follow-up

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

Further Outpatient Care

Patients with tuberous sclerosis complex require regular follow-up care. Evaluation must include a detailed review of manifestations, including seizures, flank pain, hematuria, and school and behavioral issues, as well as blood pressure measurement and funduscopic examination.

Patients with tuberous sclerosis complex require surveillance testing based on the schedule outlined in Workup. Testing includes MRI or CT scanning of the brain; electroencephalography; echocardiography; electrocardiography; renal ultrasonography, CT scanning, or MRI; pulmonary CT scanning; and pulmonary function testing (PFT).

Routinely monitor patients on anticonvulsant medications for adequacy of seizure control.

Patients with behavioral or psychiatric disorders require routine outpatient follow-up evaluation.

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Further Inpatient Care

Admit patients with tuberous sclerosis complex (TSC) who have evidence of increased intracranial pressure for medical treatment and surgical intervention.

Patients who present with status epilepticus may require admission for medical treatment and observation.

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Inpatient & Outpatient Medications

Various anticonvulsant medications, such as carbamazepine, valproic acid, or lamotrigine,[50] may be used for seizure control.[51] The goal is monotherapy, although many patients require multidrug therapy for adequate seizure control.

The first drug of choice for treatment of infantile spasms is vigabatrin, although it is not yet available in the United States. Other drugs used to treat infantile spasms include prednisone and corticotropin.

Antihypertensive medications, such as ACE inhibitors, are needed in patients with renal disease and resultant hypertension.

Occasionally, infants or young children with cardiac rhabdomyomas develop heart failure. Inotropic support may be required in some of these patients.

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Transfer

Immediate transfer is indicated if a patient has evidence of increased intracranial pressure or hydrocephalus and a neurosurgeon is not available.

Transfer the patient during the initial workup or surveillance testing if consulting specialists or imaging studies, such as CT scan, MRI, or ultrasonography, are not available.

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Deterrence/Prevention

Tuberous sclerosis complex cannot be prevented because it is inherited in an autosomal dominant pattern or arises from a spontaneous mutation.

Genetic counseling is important for patients, parents, and family members who are considering having children. Genetic testing/mutational analysis is currently available and prenatal diagnosis is possible if a mutation in the affected parent has been detected.

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Complications

See the list below:

  • Increased intracranial pressure and hydrocephalus
  • Mental retardation
  • Seizures
  • Schizophrenia, aggressive behavior, or other behavior disorders
  • Autism or pervasive developmental disorder (PDD)
  • Renal failure or hemorrhagic shock due to bleeding angiomyolipomas
  • Pneumothorax or obstructive lung disease
  • Cardiac arrhythmia or heart failure
  • Death
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Prognosis

Tuberous sclerosis complex has a wide clinical spectrum. Some patients are affected subclinically with no decrease in life expectancy or quality of life. Cognitive outcome in tuberous sclerosis complex appears to depend more on the age of the seizure onset rather than on the tuber count.[52]

A decreased life expectancy is noted in some individuals with tuberous sclerosis complex. This is often related to treatable or preventable causes of death, such as pulmonary or renal disease. Appropriate surveillance studies with any necessary early intervention may improve quality of life and life expectancy.

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Patient Education

Instruct patients, parents, and family members regarding seizure precautions. A medical identification bracelet may be useful.

Educate patients and their families regarding the symptoms of increased intracranial pressure and hydrocephalus so that medical attention may be sought quickly.

Provide genetic counseling to assist in family planning.

An excellent resource for patients and their family members for information and support is the Tuberous Sclerosis Alliance. The contact information is as follows:

Tuberous Sclerosis Alliance

801 Roeder Road, Suite 750

Silver Spring, MD 20910

Telephone: 1-800-225-6872

Fax: 1-301-562-9870

email: info@tsalliance.org

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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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