title: [Atypical presentation of tuberous sclerosis].
abstract: 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.
authors.affiliation: mks@dadlnet.dk.
authors.forename: Marius
authors.initials: M
authors.lastname: Kløvgaard
authors.forename: Ali A
authors.initials: AA
authors.lastname: Muhamad
authors.forename: Ioannis
authors.initials: I
authors.lastname: Tsiropoulos
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D012640:Seizures / Q000188:drug therapy / Q000209:etiology; D014402:Tuberous Sclerosis / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D055815:Young Adult
chemical_list: D000927:Anticonvulsants