This MRI scan from another patient shows typical intracranial hamartomas seen in tuberous sclerosis.
Guidelines for ongoing care. At present, there is no cure for TSC. The goal of management is the prevention and treatment of complications associated with TSC. Surveillance guidelines for primary care providers have been established to ensure the optimal ongoing care and treatment of patients with TSC. These consist of the following:
- Annual checkups that include physical examination, ophthalmological and funduscopic examination, developmental assessment, and discussion of academic progress.
- Renal ultrasonography at time of diagnosis and every 1 to 3 years thereafter; these studies are especially critical during the adolescent years.
- Ongoing follow-up with a pediatric cardiologist if cardiac rhabdomyoma is detected on echosonography.
- Cranial CT or MRI scans every 1 to 3 years.
- Initial genetic counseling and ongoing psychological counseling to help family members and patients who have TSC with questions about inheritance of the disorder, prognosis, and psychological adjustment.1
A number of resources are available that can help patients, parents, and health care providers with management issues. These are listed in the Box.
Parental assessment. Thorough evaluation of the biological parents of an affected child with an apparently negative family history of TSC is also recommended. An assessment should include some, if not all, of the following:
- Skin evaluation for hypomelanotic macules using a Wood lamp.
- Ophthalmological/retinal examination.
- Brain imaging.
- Renal ultrasonography.
- Molecular testing with sequence analysis if the TSC mutation has been identified in the affected child. Obtaining this information allows for the ascertainment of recurrence risks if the parents have another child.2
Most patients with TSC have a normal life expectancy. Prognosis is dependent on the severity of symptoms, degree of organ involvement, and access to proper medical care.5 The increased risk of CNS, pulmonary, and renal neoplasias can shorten the lives of affected patients. Other leading causes of premature death include complications associated with severe mental impairment.2
Tuberous sclerosis is identifiable at birth or shortly thereafter on the basis of the characteristic cutaneous findings and possible development of seizure activity early in life. It is important that this neurocutaneous complex be recognized so that pertinent medical concerns can be promptly addressed.
Resources for Patients With Tuberous Sclerosis
The following national and international support groups and organizations are invaluable resources that can help patients with tuberous sclerosis and their caregivers as well as educate medical personnel about neurocutaneous disorders:
- Tuberous Sclerosis Alliance (www.tsalliance.org)
- National Institute of Neurological Disorders and Stroke (www.ninds.nih.gov)
- National Organization for Rare Disorders, Inc (www.rarediseases.org)
- Epilepsy Foundation (www.epilepsyfoundation.org)