Tuberous sclerosis complex

Prognosis and complications
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By Hema R Murali MBBS and Narayana S Murali MD

The spectrum and severity of organ involvement determines morbidity and mortality for patients with tuberous sclerosis complex, with complications of renal disease being the second most common cause of death after severe intellectual disability (Shepherd et al 1991). In general, it appears that TSC2 mutation presents with a more severe spectrum than TSC1 mutations.

Complicated CNS involvement is a common cause of death. Children and young adults are at particular risk from status epilepticus. Patients with severe mental retardation are at increased risk of death from respiratory infections.

Respiratory failure occurs in about 40% of patients with biopsy-proven lymphangioleiomyomatosis (Shepherd et al 1991). The risk of hemorrhage is 25% to 50% in patients with renal angiomyolipomas; these patients may present in hypovolemic shock. Complications from this lesion are the third leading cause of death. Cardiac dysrhythmias, including Wolff-Parkinson-White syndrome, may be problematic, although death from obstruction of ventricular outflow is rare (O’Callaghan et al 1998). Severe congestive cardiac failure can occur in infancy. Thoracic and abdominal aneurysms can present anytime during childhood, including infancy, and have a high likelihood of rupture.

In This Article

Historical note and nomenclature
Clinical manifestations
Clinical vignette
Pathogenesis and pathophysiology
Differential diagnosis
Diagnostic workup
Prognosis and complications
References cited