tuberous sclerosis complex

Subependymal giant-cell astrocytoma

A subependymal giant-cell astrocytoma (SEGA) is a slow-growing brain tumor that can develop from a subependymal nodule and block the flow of brain fluid, so it is monitored with brain imaging.

Subependymal nodules

Subependymal nodules are small benign growths lining the fluid spaces of the brain. They are common and are watched because a few can grow into a SEGA.

Ungual fibroma

Small fleshy growths around or under the finger- and toenails (ungual or periungual fibromas) are a skin feature of TSC, usually appearing later in childhood or adulthood.

Cortical tubers

Cortical tubers are areas of abnormally formed brain tissue. They are a hallmark of the condition and are closely linked to epilepsy.

Angiofibromas

Facial angiofibromas are small reddish bumps that develop across the cheeks and nose, usually appearing in childhood. They are one of the most recognizable skin signs.

Renal angiomyolipoma

Renal angiomyolipomas are benign tumors of the kidneys. They are common and matter because larger ones can bleed, which is a major source of illness in the condition.

Cardiac rhabdomyoma

Cardiac rhabdomyomas are benign heart-muscle tumors, often present before birth. Many shrink on their own over time, but large ones can cause problems early in life.

Shagreen patch

A shagreen patch is a raised area of thickened, leathery skin, usually on the lower back, and is a characteristic skin feature.

Seizure

Seizures are common and often begin in infancy. Controlling them is one of the central goals of care because frequent early seizures can affect development.

Cortical dysplasia

In the brain, TSC causes areas of abnormal development. Cortical tubers (a kind of focal cortical dysplasia) and subependymal nodules are characteristic and are often what seizures arise from.

Infantile spasms

Infantile spasms are a particular seizure type that can appear in babies with the condition. They need prompt treatment because they can harm development if untreated.

Autistic behavior

TSC affects the brain in ways that go beyond seizures. Autism spectrum disorder and other neuropsychiatric features (together called TAND) are common and benefit from screening and support.

Autism

Neurodevelopmental and behavioral effects, including autism spectrum disorder, are common and are grouped together as TSC-associated neuropsychiatric disorder (TAND).

Epileptic spasm

Seizures are common in TSC and often begin in infancy. Early-onset infantile spasms (a distinctive seizure type in babies) are a hallmark and need prompt treatment to protect development.

Hypomelanotic macule

Hypomelanotic macules, often called ash-leaf spots, are pale patches of skin that are usually present from birth or early infancy and are often the earliest visible sign.

Tuberous sclerosis complex

Diagnosed using: Brain MRI.

everolimus

Everolimus is an mTOR-inhibitor medicine that targets the overactive growth pathway underlying the condition. It can shrink SEGAs and kidney angiomyolipomas and reduce seizures, treating several manifestations at once.

Used to help with: Tuberous sclerosis complex.

vigabatrin

Vigabatrin is the medicine of choice for infantile spasms in this condition and is often started early to control them.

Used to help with: Infantile spasms.