A careful examination is necessary before making any firm diagnosis since hypopigmented macules may be a normal finding in newborn babies. It has been suggested that 3 or more white macules at birth should alert the clinician regarding the possibility of tuberous sclerosis. The tuberosclerotic nodules of glial proliferation occur in the cerebral cortex, basal ganglia, and ventricular walls, but are rare in the cerebellum, medulla, or spinal cord. Rarely, hydrocephalus may result from obstruction of the foramen of Monro. The number of tubers in the cortex and subcortex appears to correlate with the clinical severity of disease, as measured by the ease of control of seizures, the appearance of developmental milestones, and school performance.
Epilepsy requires treatment, preferably with monotherapy.
Carbamazepine and sodium valproate traditionally are used in the initial treatment. Lamotrigine also is used as adjunctive therapy of partial seizures in adults. Other features noted include schizophrenia, autistic behavior, and attention-deficit hyperactivity disorder. Eye Ocular involvement includes hypopigmented spots in the iris, equivalent to the ash-leaf macule in the skin. These represent hamartomas characterized by proliferation of astrocytes.