Diagnosis & Treatment
How We Diagnose TSC
TSC is often detected at or before birth by the presence of heart lesions (rhabdomyomas) seen on ultrasound, which may signal the need for further evaluation.
In infants, TSC may be suspected if the child has cardiac rhabdomyomas at birth or seizures (especially the kind called infantile spasms) in the first six months of life. With a careful examination of the skin and brain, it may be possible to diagnose TSC in a very young infant. However, many children are not diagnosed until later in life when their seizures begin or other symptoms such as facial angiofibromas appear.
Diagnosis of TSC is based on a careful clinical exam in combination with imaging of the brain, such as computed tomography (CT) or magnetic resonance imaging (MRI) —which may show tubers in the brain, and an ultrasound of the heart, liver, and kidneys, which may show tumors in those organs.
How We Treat TSC-Related Seizures
For children with TSC who have seizures (such as infantile spasms), our epileptologists collaborate with pediatric neurologists and pediatric neurosurgeons to determine the best course of treatment that meets their individualized needs.
- Anticonvulsant medications are the first therapy used to control seizures.
- Patients whose seizures are not well controlled with medication may be candidates for surgery to remove tumors in the brain responsible for the seizures.
Patients also undergo regular surveillance to monitor their health and to see if their TSC has progressed to other organ systems. At NewYork-Presbyterian, our team of pediatric neurologists, neurosurgeons, cardiologists, geneticists, pulmonologists, dermatologists, ophthalmologists, and others work together to formulate a plan of care that addresses each child’s unique needs.