Monitoring

The effects of TSC on a patient are often unique to that person. Nonetheless, many common problems among people with TSC require similar monitoring over time.

Brain

Routine electroencephalogram (EEG) is recommended for patients with known or suspected seizure activity, with frequency determined by clinical need rather than a defined interval.[1] EEG may precede onset of seizures. EEG should be performed in asymptomatic infants with TSC every 6 weeks up to age 12 months, and then every 3 months up to age 24 months.[1]

Magnetic resonance imaging (MRI) of the brain should be carried out every 1 to 3 years in patients younger than 25 years to monitor the development of presymptomatic subependymal giant cell astrocytoma (SEGA).[1] Patients with large or growing SEGA, or asymptomatic patients with SEGA causing ventricular enlargement, require more frequent monitoring. Neurosurgical interventions will be needed if enlargement produces symptoms or impending hydrocephalus.

TSC-associated neuropsychiatric disorders (TAND)

Screening for TAND should be carried out annually (or more frequently depending on clinical need) using a validated tool such as the TAND checklist.[21]​​[22] TAND checklist Opens in new window Comprehensive neurodevelopmental assessment should be carried out at key developmental time points: infancy (0-3 years), preschool (3-6 years), before middle school (6-9 years), adolescence (12-16 years), early adulthood (18-25 years), and subsequently as needed.[1][14]

Heart

Echocardiography should be performed every 1 to 3 years for asymptomatic pediatric patients with cardiac rhabdomyomas, and more frequently for symptomatic patients, until regression is documented.[1] An electrocardiogram (ECG) should be carried out every 3 to 5 years in asymptomatic patients of all ages, to screen for conduction defects.[1] More frequent cardiac assessment and additional investigations may be required in symptomatic patients.[1]

Kidney

Abdominal MRI should be carried out every 1 to 3 years once the development of angiomyolipomas is identified.[1] Multicystic renal disease may be apparent in infancy, but the evolution of these lesions is typically less often radiographic and anatomic and more often physiologic, affecting renal functioning. Renal function and blood pressure should be checked at least annually.[1][14]

Lungs

All women with TSC should have a chest computed tomography (CT) examination of the lungs by 18 years of age to identify lymphangioleiomyomatosis (LAM). Complete pulmonary function testing and continued surveillance is necessary for those with evidence of LAM. Asymptomatic female patients who are at risk of LAM but do not have lung cysts on their initial chest imaging should have high-resolution chest CT every 5 to 7 years until menopause.[1] Screening for symptoms of LAM (e.g., exertional dyspnea, shortness of breath) is recommended at each clinic visit. Pulmonary function tests should be performed annually in patients with evidence of LAM.[1]

Teeth

A detailed dental examination at least every 6 months is recommended.[1]

Eye

Annual ophthalmic examination is recommended for patients with or without visual symptoms at presentation or previously identified ophthalmic lesions. More frequent assessment is indicated if there are new clinical concerns.[1] Vigabatrin may be associated with visual field loss; therefore, ophthalmologic examination every 3 months is recommended for patients treated with this drug.[1]

Skin

An annual, detailed skin inspection is recommended for children with TSC. Assessment frequency for adults depends on cutaneous manifestation.[1]

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