Genetics of Tuberous Sclerosis Follow-up

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Jun 14, 2011
 

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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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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Inpatient & Outpatient Medications

Various anticonvulsant medications, such as carbamazepine, valproic acid, or lamotrigine,[38] may be used for seizure control.[39] 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

  • 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.[40]

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, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

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

Disclosure: Nothing to disclose.

Coauthor(s)

Sergiusz Jozwiak, MD  PhD, Head, Professor, Department of Child Neurology, The Children's Memorial Health Institute of Warsaw, Poland

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

Disclosure: Novartis Honoraria Speaking and teaching

Robert Pedersen, MD  Chief of Child Neurology, Assistant Professor, Departments of Pediatrics and Neurology, Tripler Army Medical Center

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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 American Society of Human Genetics

Disclosure: Nothing to disclose.

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.

Leonard G Feld, MD, PhD, MMM, FAAP  Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center

Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

Acknowledgments

The authors and editors of eMedicine 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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