The brain lesions found in patients with tuberous sclerosis are: white matter abnomalities, cortical tubers, subependymal nodules, subependymal giant cell astrocytomas, cortical dysplasia (giant cortical tuber), and cysts (Figure 300.1). Lesions in the temporal lobe may indicate a high incidence of infantile spasm.

A	B	C

Figure 300.1.— Tuberous sclerosis. [A] cortical tubers, [B] subependymal nodules, [C] cortical dysplasia.

Brain computed tomography may show periventricular calcification even in the neonatal period (Figure 300.2 [C]).

A	B	C

Figure 300.2.— Tuberous sclerosis. [A] Skin examination under normal light (no appreciable hypopigmented spot); [B] skin examination under Wood's light (hypopigmented spot); [C] typical location of intracranial calcifications (close to the foramina of Monro).

The caracteristic pathological lesions in the CNS of patients with tuberous sclerosis are cortical tubers, subependymal nodules, and giant cell tumors.
Antiepileptic drugs may control the seizures. Phenobarbital is the first choice. The possibility of epilepsy surgery should be considered in these patients. Vigabatrim is an effective treatment for infantile spasm in infants with tuberous sclerosis. Vigabatrim has not been used in neonates.
Tuberous sclerosis is an autosomal dominant disorder with variable expression and incomplete penetrance. New mutations constitute about 75% of the cases. The gene loci are 9q34 and 16p13. Mutations on chromosome 11 have also been associated with tuberous sclerosis.