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Atypisk præsentation af tuberøs sklerose

Forfatter(e)
Marius Kløvgaard1, Ali A. Muhamad2 & Ioannis Tsiropoulos1 1) Neurologisk Klinik, Rigshospitalet 2) Neuroradiologisk Afsnit, Røntgen-afdelingen, Rigshospitalet Ugeskr Læger 2016;178:V06160390
Reference: 
Ugeskr Læger 2016;178:V06160390
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2-3
Atypical presentation of tuberous sclerosis
Tuberous sclerosis complex (TSC) is an inherited disorder with a prevalence of 1/20,000. The diagnosis is based on clinical criteria and/or genetic testing. Most cases are found during childhood. Yet, the intra- and interfamiliar expressivity is variable, so the diagnosis should be considered in adults too. This is a case report about a 20-year-old female with an atypical presentation of TSC. The case highlights that TSC can be suspected in adults with a first-time seizure. The diagnosis is important because it leads to multidisciplinary follow-up.
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