pediatrics
Tuberous Sclerosis Complex (TSC)
Treatment of TSC
Symptomatic treatment Sirolimusoreverolimus Treatment of TSC is both symptomatic and specific: for Infantile Spasms ) or sometimes epilepsy surgery For skin lesions: Dermabrasion or laser techniques, topicalsirolimus For neurobehavioral problems: Behavior management techniques or medications For hypertension caused by renal problems: Antihypertensives or surgery to remove growing tumors For developmental delays: Special schooling or occupational therapy For CNS tubers:Everolimusorsirolimus Although so far they are approved only for the treatment of Astrocytomas (SEGAs), growing evidence suggests oral Genetic counseling is indicated for adolescents and adults of childbearing age. All patients should be screened regularly to detect complications of TSC early. Typically, the following is done: MRI of the head to check for intracranial complications (eg, SEGAs) at least every 3 years Renal ultrasonography or MRI of the abdomen to check for kidney tumors every 3 years in school-aged children and every 1 to 2 years for life in affected adults In girls ≥ 18 years, screening for exertional dyspnea and shortness of breath annually and high-resolution CT every 5 to 10 years to screen for lymphangioleiomyomatosis Neuropsychologic testing periodically and behavioral screening in children to help plan for support at school and behavioral interventions Echocardiography at least every 3 years for asymptomatic children and adolescents with cardiac rhabdomyomas Regular monitoring must be continued until cardiac rhabdomyomas have regressed. Clinical monitoring is also important and sometimes prompts more frequent testing. Development of headaches, loss of skills, or new types of seizures may be caused by malignant degeneration or growth of CNS tubers and are indications for neuroimaging. 1.Darling T: Topicalsirolimusto treat tuberous sclerosis complex (TSC).JAMA Dermatol154(7):761–762, 2018. doi: 10.1001/jamadermatol.2018.0465 