Your child’s symptoms may be very subtle in the beginning. Seizures and/or white patches on the skin are often the first signs of the condition.
Seizures and Epilepsy
Nearly all children with tuberous sclerosis will have some issues with the brain. Roughly 80% of children with tuberous sclerosis have epilepsy or experience generalized or partial seizures. Medicines can help lessen these symptoms.
Infantile spasms occur in about a third of children and most often occur when a child is between four and six months old. During an infantile spasm, a child’s head, abdomen, arms and legs may jerk briefly. The child may cry during and after the episodes. Infantile spasms often occur when first waking up from sleep and may occur regularly for a period of days, go away and then begin again. Medicines may provide relief from these spasms.
Lesions in the Brain
Tuberous sclerosis was named after a commonly associated brain lesion, called a cortical tuber. These non-cancer (benign) lesions usually form on the outside surface of the brain. Other types of brain lesions may develop deeper inside the brain.
Brain lesions grow in roughly 20% of patients. Depending on the location, they may block the flow of fluid in the brain. As fluid builds up, a child may have headaches and vision problems.
Your child may have white patches on the face, body or fingernails, most of which are present at birth. The doctor may need an ultraviolet light to see these white patches.
As your child gets older, they may develop a rash on the nose and cheeks in a butterfly shape (facial angiofibroma). They may also see small skin nodules (bumps) develop around fingernails and toenails.
None of these skin conditions are harmful to your child.
Lesions caused by TSC in the kidney are very common and may cause a change in kidney function. Screening for these lesions and checking kidney function over time are both part of routine TSC care.
The majority of children with TSC are born with benign heart tumors (cardiac rhabdomyomas). These tumors may show up in an ultrasound before birth or are identified in the first year of life, at which time a referral to a cardiologist is placed. These tumors often reduce in size on their own as the child grows.
If a child has heart rhythm disturbances or ‘flutters’, they are again referred to a cardiologist for evaluation.
About half of all children with TSC will have retinal (eye) lesions, which may present as inflammation of the retina or benign tumors. These rarely impact vision.
Occasionally some section of the retina, iris or eyelashes will have little or no color/pigmentation.
Developmental and Behavioral Symptoms
Some of the largest challenges for children with TSC and their families are developmental and behavior disorders caused by brain function impairment. While nearly all children with tuberous sclerosis will face a learning disability, roughly half of children will have one or more of the following:
Some children may have normal development and intelligence compared to other children but may still face mild learning disabilities.