Tuberous sclerosis in an infant of 28 weeks gestational age

A case of tuberous sclerosis diagnosed at autopsy in a neonate at 28 weeks gestation is described. This is believed to be the earliest case yet reported. The CNS lesions consist of cortical tuberosities, heterotopic white matter nodules and subependymal nodules. These nodules consist predominantly of giant astrocytes but a small undifferentiated cell component is present as well. Multiple cardiac rhabdomyomas are also present. An explanation for neuronal hypocellularity within the cortical tuberosities is suggested.