Details
Termination of pregnancy of male fetus at 31 weeks’ gestational age due to multiple abnormalities detected on prenatal ultrasound. On general autopsy, multiple cardiac rhabdomyomas were found.
Tuberous sclerosis is an autosomal dominant, multisystem disorder in which the CNS, eyes, kidneys, skin, and heart are most commonly affected by malformative, hamartomatous, or neoplastic lesions; it is caused by mutations in TSC1 (9q34, hamartin) or TSC2 (16p13, tuberin). Brain abnormalities include cortical tubers that in some cases can involve large areas of the cerebral hemisphere (as in this case), subependymal nodules, and subependymal giant cell astrocytomas. Microscopically, tubers consist of an extremely disorganized cortex, with bizarre neuroglial cells and gemistocyte-like balloon cells. This disorganization involves the subcortical white matter and usually extends to the ventricular surface.