Tuberous sclerosis complex (TSC)

Tuberous sclerosis is a genetic disorder that affects various parts of the body to varying degrees of severity. Its common characteristic is the formation of tuber-like growths in the brain and, perhaps, other organs, including the kidneys, heart, liver and lungs. These growths begin to form in the brain prior to birth and interfere with brain functioning. They can cause seizures, delayed development, mental retardation, and behaviours that seem autistic or hyperactive. With age, these growths become hard and calcified, hence the term ‘sclerosis’. However, life expectancy remains normal. Around one out of two people born with tuberous sclerosis will lead normal lives with no apparent intellectual dysfunction or epilepsy. Estimates vary, but it is thought that approximately one in 7,000 to 10,000 people have tuberous sclerosis. There is no cure.

Symptoms
The symptoms of tuberous sclerosis vary from one individual to the next, depending on the severity of the condition and which areas of the body are affected. Symptoms may include:

• White patches of skin on the body.
• Skin rash of red pin-points across the nose and cheeks that progress to small lumps.
• Delayed development.
• Learning difficulties.
• Epilepsy.
• Autistic tendencies.
• Hyperactive tendencies.
• Sleeping difficulties.

• Ash leaf patch - patches of skin are white because they lack pigment. These patches tend to take the shape of a leaf. These patches are sometimes present at birth, but usually fade over the years.
• Shagreen patch - the skin patch has a textured, raised appearance, similar to orange peel. These patches are present at birth and usually form on the lower back. These patches can also develop later in life.
• Facial angiofibroma - the affected child typically develops a rash across their nose and cheeks. At first, the rash appears like collections of red pin-points, then each mark develops into a small lump. When the child reaches their teenage years, little papules may also form around their finger and toenails.

• Epilepsy - around 80 per cent of children with tuberous sclerosis have seizures or fits. In some cases, the epilepsy starts within a few months of birth with infantile spasms. These seizures may lessen with time and cease altogether, but medication is needed to control them as soon as possible.
• Developmental delay - depending on the severity of the condition, the child may fail to reach expected milestones within the normal age range. Whether or not a child will have developmental problems is usually apparent by their second birthday.
• Mental retardation - depending on the severity, some children may have normal intellectual function, or mild to severe retardation.
• Autistic tendencies - typical behaviours associated with autism include the tendency to avoid eye contact, and problems with language and social development.
• Hyperactive tendencies - typical behaviours associated with hyperactivity include impulsivity and overactivity.

• Physical examination.
• Eye examinations, which may reveal retinal abnormalities.
• Tests to check for heart abnormalities.
• A computed tomography (CT) scan, since growths will show as white patches in the brain.
• Other possibly affected organs, such as lungs and kidneys, may be checked for the presence of tuber-like growths to confirm diagnosis.
• There is no prenatal test available to check the unborn baby, although echocardiography of the baby’s heart may show the characteristic lesions.

• Anti-epileptic drugs - to treat the associated seizures. Medications need to be carefully monitored to make sure the child isn’t over-sedated.
• Skin treatments - the advice of a dermatologist should be sought to treat the skin rashes. Laser therapy can remove the papules.
• Occupational therapy - to help the child acquire coping skills and strategies.
• Speech therapy - to assist communication skills.
• Stimulation - to encourage the child’s social and intellectual development. Options could include playgroups and home teaching.

• Your doctor
• Your neurologist
• Paediatrician
• Dermatologist
• Occupational therapist
• Australasian Tuberous Sclerosis Society Tel. (02) 9630 3147

• Tuberous sclerosis is a genetic disorder that can target various parts of the body to varying degrees of severity.
• Its common characteristic is the formation of tuber-like growths in the brain and, perhaps, other organs, including the kidneys, heart, liver and lungs.
• These growths can cause seizures, delayed development, intellectual impairment, and behaviours that seem autistic or hyperactive.
• There is no cure.

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