eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Tuberous Sclerosis: Follow-up

Author: Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Coauthor(s): Sergiusz Jozwiak, MD, PhD, Head, Professor, Department of Child Neurology, The Children's Memorial Health Institute of Warsaw, Poland; Robert Pedersen, MD, Chief of Child Neurology, Assistant Professor, Departments of Pediatrics and Neurology, Tripler Army Medical Center
Contributor Information and Disclosures

Updated: Feb 17, 2009

Follow-up

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.

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.

Inpatient & Outpatient Medications

  • Various anticonvulsant medications, such as carbamazepine, valproic acid, or lamotrigine,25 may be used for seizure control.26 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.

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.

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 is under investigation, with mutational analysis currently available on a research basis. Prenatal testing may be available in the future.

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

Prognosis

  • Tuberous sclerosis complex has a wide clinical spectrum, and some patients are affected subclinically with no decrease in life expectancy or quality of life.
  • 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.

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

Miscellaneous

Medicolegal Pitfalls

  • Failure to recognize signs or symptoms of tuberous sclerosis complex (TSC)
  • Failure to recognize the presence of increased intracranial pressure and to provide appropriate treatment
  • Failure to obtain appropriate screening or surveillance studies
  • Failure to provide genetic counseling to patients, parents, or family members
  • Failure to screen first-degree relatives for tuberous sclerosis complex once an individual is diagnosed with tuberous sclerosis complex
 
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.



More on Tuberous Sclerosis

Overview: Tuberous Sclerosis
Differential Diagnoses & Workup: Tuberous Sclerosis
Treatment & Medication: Tuberous Sclerosis
Follow-up: Tuberous Sclerosis
Multimedia: Tuberous Sclerosis
References
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Further Reading

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Keywords

tuberous sclerosis, tuberous sclerosis complex, TSC, Bourneville disease, neurocutaneous disease, mental retardation, epilepsy, facial angiofibromas, cortical tubers, subependymal nodules, SEN, subependymal giant cell astrocytomas, SEGA, hypomelanotic lesions, Fitzpatrick patches, ash-leaf spots, cardiac rhabdomyomas, renal angiomyolipomas, hamartomas, confetti lesions, shagreen patches, fibrous plaques, periungual fibromas, renal cysts, angiomyolipomas, spontaneous pneumothorax, cor pulmonale, phalangeal cysts, status epilepticus, bronchopneumonia

autism, pervasive developmental disorder, PDD, outflow obstruction, cardiomyopathy, arrhythmia, polycystic kidney disease, PKD, lymphangioleiomyomatosis, LAM, pulmonary cysts, phalangeal cysts, sclerotic lesions, hydrocephalus, sleep disorder, hyperactivity, schizophrenia, cafe au lait spots

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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, UMDNJ-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, PhD is a member of the following medical societies: Sigma Xi
Disclosure: Nothing to disclose.

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 Pediatrics and Child Neurology Society
Disclosure: Nothing to disclose.

Medical Editor

Erawati V Bawle, MD, FAAP, FACMG, Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan; Professor (Clinician-Educator), Department of Pediatrics, Wayne State University School of Medicine
Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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.

CME Editor

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, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, 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.

 
 
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