Early & Childhood Years

During infancy through young adulthood seizures and subependymal giant cell astrocytoma (SEGA) dominate much of the medical journey. Seizures are still problematic for many and unfortunately several have developed refractory epilepsy that will remain challenging to manage indefinitely until we have better knowledge and resources to assist with this manifestation. EEGs will still be a common diagnostic approach routinely and for atypical changes such as changes in seizure type or frequency, change in behavior, unexplained sleepiness or vomiting. During this age span, a pediatric neurologist who is familiar with TSC should be part of your child’s healthcare team. Epilepsy (seizures) is frequently the main manifestation of TSC that leads to the diagnosis but not always. Even if your child presented with a TSC diagnosis and has not shown any signs of seizures, it is still clinically recommended to be evaluated during this phase as signs and symptoms of TSC change rapidly during these years due to normal growth and development. Learn more about epilepsy in TSC here.

Kidney (renal) manifestations such as cystic disease and renal angiomyolipomas continue to grow throughout this part of the lifespan. Not only is your loved one aging, in which chronic kidney disease tends to manifest in general adulthood, but the progression of TSC-specific manifestations and long-term medication use all contribute to factors that place your loved one at risk for chronic kidney disease and/or hypertension. Surveillance with MRI of the abdomen is still recommended every 1 to 3 years during this timeframe. Ideal diet, daily exercise and maintaining an optimal blood pressure are essential for not only general and cardiovascular health purposes but also to minimize declining renal function.

Individuals with TSC are at a higher risk of developing lymphangioleiomyomatosis (LAM). LAM is a rare lung disease that affects women more often than men, usually between the onset of puberty and menopause. It can cause shortness of breath or other complications such as recurrent lung collapse. Treatments for LAM can include medication (Rapamune®, sirolumus), oxygen therapy or lung transplantation in very advanced diseases. Ongoing screening and management are recommended throughout the lifespan. Proactively understanding symptoms that should be reported to the clinical team would include connective tissues disease symptoms, chyle leak, dyspnea, cough or experiencing spontaneous pneumothorax. Should these symptoms arise and are not explained by other factors, you should notify the TSC specialist for further recommendations.

The LAM Foundation has excellent resources and support for those looking for additional information on LAM.

The common pediatric manifestation of cardiac rhabdomyomas is known to regress over time from birth. However, some individuals with TSC will continue to have small evidence of these lesions throughout adulthood. There is not sufficient evidence to know if these lesions cause issues during adulthood; however, one problematic issue that can occur is irregular heartbeats known as cardiac arrhythmias or conduction defects. One arrhythmia that has been well documented within the literature is Wolfe-Parkinson-White Syndrome (WPW Syndrome). Because of these potential possibilities diagnostic testing such as echocardiogram (ECHO) and electrocardiogram (EKG/ECG) should be completed every 1 to 3 years for those who do have symptoms. Those who do will most likely have more frequent follow-up and diagnostic surveillance that your cardiologist feels necessary.

Most of these manifestations do not cause life-altering problems. However, facial angiofibromas do start to grow during this part of the lifespan. At times they can become painful and cause recurrent bleeding concerns and rarely, nasal airway obstruction. First-line treatment recommendation focuses on mTOR inhibitor treatment. In 2022, the FDA approved the first topical rapamycin gel for those diagnosed with facial angiofibromas. During adolescence ungual fibromas (lesions that grow in fingernails or toenails) can also start appearing. If those become problematic or bothersome, surgical removal can be completed by a dermatologist. It is recommended to continue to have annual ophthalmic evaluations to assess for visual impairments. If your child experiences a sudden loss of vision of any sort, double vision, blurry vision or a sudden onset of significantly elevated blood pressure, you should notify the local medical team immediately. As with the eyes, teeth manifestations are another area that has not received much longitudinal surveillance from a research standpoint. We do know enamel pits remain an issue throughout the lifespan, so having your dentist preventively utilize sealants to minimize tooth decay is appropriate every 6 months. It is important to know oral fibromas can occur near the teeth or within the bony jaw, and these should be treated with surgical excision or curettage when present.