A 15 YEARS OLD GIRL WITH TUBEROUS SCLEROSIS COMPLEX (TSC) A CASE REPORT
Pitra Sekarhandini,Fadhilah Tia Nur
Pediatric Department Faculty of Medicine Sebelas Maret University
Background : Tuberous sclerosis complex (TSC) occurs in 1:6000 live births. TSC is one of neurocutaneus disorder, associated with skin and/or hair abnormalities, developmental regression, language impairment, autism spectrum disorder, and epilepsy. The treatment recommendations vary, based on the clinical manifestations.
Case Presentation Summary : A 15-years old girl experienced general seizure for 3 years, complaining for papules on her face, forehead, nose, and both cheeks. Physical examination showed multiple erythematous papules on her frontal and maxillar areas. No cardiac impairment was observed on echocardiography. Funduscopy revealed no retinal plaques. Brain MRI demonstrated multiple hyperintense nodular lesions on cortex, subcortex, and bilateral periventricles, suggesting tuberous sclerosis. She takes valproic acid started from dose 15mg/kg increased to 30 mg/kg. She experienced last seizure 6 months ago.
Learning Points/Discussion : Patient with epilepsy presenting cutaneus disorder especially multiple papules on facial should be considered as tuberous sclerosis complex. Growth and development should be monitored regularly due to risk of any impairment as well as its regressions.
Keywords: TSC Tuberous Sclerosis Complex Neurocutaneus Disorder children
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