Tuberous Sclerosis Follow-up

Updated: Oct 14, 2015
  • Author: David Neal Franz, MD; Chief Editor: Amy Kao, MD  more...
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Follow-up

Further Inpatient Care

See the list below:

  • Patients with TSC may experience frequent exacerbations of their seizures that may require inpatient adjustment of AEDs.
  • Patients with TSC may have retroperitoneal hemorrhage and/or hematuria from larger (>4-6 cm) AMLs. These sometimes can be catastrophic and require emergent supportive care. Once the patient's condition is stabilized, embolization rather than resection is the preferred method of treatment for AMLs that have bled. Patients with end-stage renal disease may require inpatient treatment for dialysis or management of hypertension or electrolyte disturbance.
  • Patients with LAM may require acute inpatient treatment for pneumothorax, chylothorax, or dyspnea. Lung transplantation may be undertaken for end-stage pulmonary disease.
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Complications

See the list below:

  • Death: Death is usually either sudden unexplained death in epilepsy or related to an accident involving a seizure. Critical hydrocephalus from undiagnosed giant cell astrocytoma, cardiac arrhythmia, hemorrhagic complications of renal AMLs, and rupture of occult arterial aneurysms also contribute to increased mortality.
  • Injuries (especially facial) from seizures resulting in falls
  • Dose-related, idiosyncratic, or long-term adverse effects of AEDs
  • Renal, cardiac, or metabolic complications from the ketogenic diet
  • Inappropriate surgery or therapies: Clinicians unfamiliar with TSC frequently make recommendations that are unwarranted given the unique nature of the hamartomas associated with the disorder. For example, nephrectomies (even bilateral) may be undertaken to rule out the extremely low possibility of a renal cell carcinoma rather than performing serial MRI and follow-up. Patients may not receive embolization to prevent potentially fatal hemorrhage from arterial aneurysms associated with large AMLs. Invariably benign hamartomas of the liver, spleen, or other viscera are needlessly biopsied or resected on the fear that they may reflect malignancies. Children with TSC and infantile spasms are treated with agents other than vigabatrin owing to misplaced anxiety on the part of their neurologists.
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Prognosis

The prognosis of patients with TSC is not as grim as has been typically thought. Higher numbers of tubers, earlier onset and intractability of seizures, and infantile spasms are associated with (but do not guarantee) worse cognitive and behavioral outcomes (see images below). Cardiac lesions almost always spontaneously regress, although supportive care may be necessary for a time. Pulmonary and renal lesions affect prognosis on the basis of their extent and severity.

Multiple tubers in a child with tuberous sclerosis Multiple tubers in a child with tuberous sclerosis, normal intelligence, and well-controlled seizures. High tuber count does not invariably mean poor neurological outcome.
All tubers are not equal. This child has a smaller All tubers are not equal. This child has a smaller number of tubers than the patient shown in the previous image, but the tubers are larger in size. She too has normal intelligence and is seizure free on medication.
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