In 2012, new criteria for the diagnosis of TSC were published by the International Tuberous Sclerosis Complex Consensus Conference. They include the following 11 major and six minor features. The major features are as follows:
Hypomelanotic macules (three, at least 5 mm diameter)
Angiofibromas (three) or fibrous cephalic plaque
Ungual fibromas (two)
Multiple retinal hamartomas
Minor features include the following:
"Confetti" skin lesions
Dental enamel pits (more than three)
Intraoral fibromas (two)
Retinal achromic patch
Multiple renal cysts
Definite diagnosis is established by the presence of two major features or one major feature with two minor features. A possible diagnosis is established by either one major feature or two minor features.
The classic Vogt triad of seizures, mental retardation, and adenoma sebaceum is present in less than one third of patients and has become obsolete. Almost half of patients with TSC can have normal intellect. Molecular genetic testing for TSC gene mutations may be required and helpful for genetic counseling, although the clinical signatures are typically specific enough for confirmation of diagnosis. On molecular genetic testing, 10%-25% of patients with TSC have no mutation.
Management is directed at symptoms and on monitoring for progression of complications. Treatment of epilepsy in patients with TSC is difficult and often requires polytherapy. Depending on the type of seizures, appropriate and adequate antiepileptics should be prescribed. Nearly 63% cases of epilepsy in TSC are medically refractory. Ketogenic diet or resective surgery of epileptogenic tubers are options for these patients. Suggested frequency of monitoring tests has been documented by the 2012 International Tuberous Sclerosis Complex Consensus Conference, including brain MRI every 1-3 years until age 25 years; an annual clinical assessment of renal function and blood pressure; abdominal MRI, CT, or ultrasound; echocardiography every 1-3 years in asymptomatic patients until regression of cardiac rhabdomyomas is documented; 12-lead ECG every 3-5 years; and high-resolution chest CT scanning every 5-10 years in asymptomatic females ≥18 years and every 2-3 years in patients with lung cysts.
Treatment options for brain tumors associated with TSC include surgical resection or medical therapy with mechanistic target of rapamycin inhibitors, such as everolimus. Renal, pulmonary, and cardiac disease, if present, require referral and management by specialists. The prognosis varies and depends on the number and severity of organ systems involved. It is a progressive disorder, and complications lead to morbidity and mortality. Status epilepticus, SEGA, and renal disease are the most common causes of death.
The patient in this case was referred to the urology department, who performed a right-sided nephrectomy. Her antiepileptic medication was also readjusted.
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