학술논문
Atypical presentation of tuberous sclerosis / Atypisk praesentation af tuberös sklerose
Document Type
Case Study
Fallbeskrivning
Fallbeskrivning
Source
Ugeskrift for Laeger. 179(3):250
Subject
Language
Danish
ISSN
0041-5782
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.