What are tubers in the brain?
The cortical tuber (from which TSC was originally named) is a disorganized area of the brain that contains abnormal cells. Some individuals with TSC have numerous tubers, whereas others will not have any.
How does TSC affect the brain?
Certain tumors, called subependymal giant cell astrocytomas, or SEGAs, can grow in the brain of people with TSC and may block the flow of cerebrospinal fluid in the spaces (ventricles) in the brain. This blockage can lead to behavioral changes, nausea, headaches or a number of other symptoms.
What is a tuber in tuberous sclerosis?
The name tuberous sclerosis comes from the characteristic tuber or potato-like nodules in the brain, which calcify with age and become hard or sclerotic. TSC occurs in all races and ethnic groups, and in both genders.
What are the signs and symptoms of tuberous sclerosis?
Symptoms of tuberous sclerosis
- White spots on your skin that glow under a special lamp.
- A rash on your face that may look like acne.
- Problems with your kidneys.
- Areas of very thick skin, often on your back.
- Growths under or around your nails.
- Pitted teeth.
- Mental disabilities.
- Developmental delays.
What is a cortical tuber?
Cortical tubers are characterized by the undifferentiated and dysfunctional cells that comprise them. These cells, which have characteristics of both neurons and glial cells, form dense masses that disrupt the highly organized interconnected layers of the cerebral cortex.
What causes Tuberous?
Tuberous sclerosis is caused by changes (mutations) in either the TSC1 or TSC2 gene. These genes are involved in regulating cell growth, and the mutations lead to uncontrolled growth and multiple tumours throughout the body.
What are Cortical tubers?
Can TSC be cured?
There is no cure for TSC, although treatment is available for a number of the symptoms. Antiepileptic drugs may be used to control seizures.
What is the life expectancy of someone with tuberous sclerosis?
Patients with tuberous sclerosis complex (TSC) have a life expectancy of 31.2 years and a 5-fold increased standardized mortality rate, both of which were worsen in the late disease onset group associated with renal diseases.
Do Cortical tubers grow?
Cortical tubers are typically found in the cerebral cortex, the brain’s outermost layer, and may be associated with seizures, learning difficulties, and behavioral problems. They are present at birth and are not thought to grow.
What are subcortical tubers?
Cortical tubers or subcortical tubers (with involvement of the underlying white matter) are a common finding in tuberous sclerosis, present in 95-100% of cases 1. These benign hamartomatous lesions can be epileptogenic foci and are important to diagnose on imaging (typically MRI) as they can affect treatment.
Is tuberous sclerosis life-threatening?
Depending on where the noncancerous growths (benign tumors), develop and their size, they can cause severe or life-threatening complications in people with tuberous sclerosis.