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Atypisk praesentation af tuberös sklerose
Engelsk titel: Atypical presentation of tuberous sclerosis Läs online Författare: Klövgaard, Marius ; Muhamad, Ali A ; Tsiropoulos, Ioannis Språk: Dan Antal referenser: 4 Dokumenttyp: Fallbeskrivning UI-nummer: 17030099

Tidskrift

Ugeskrift for Laeger 2017;179(3)250-1 ISSN 0041-5782 E-ISSN 1603-6824 KIBs bestånd av denna tidskrift Denna tidskrift är expertgranskad (Peer-Reviewed)

Sammanfattning

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.