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Gepubliceerd in: Tijdschrift voor Kindergeneeskunde 3/2010

01-03-2010

Tubereuze sclerose

Een case report en samenvatting van de literatuur

Auteurs: F. de Beer, C. A. Verburgh, F. A. A. Langius, W. H. J. P. Linssen

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | Uitgave 3/2010

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Samenvatting

Tubereuze sclerose (TS) is een genetische systeemziekte met variabele klinische expressie veroorzaakt door hamarteuze laesies in verschillende organen, zoals huid, hersenen, nieren en hart. Veelvoorkomend en kenmerkend voor TS is het gecombineerd voorkomen van epilepsie en diverse huidafwijkingen. Voor het stellen van de diagnose is bekendheid met de verschillende klinische kenmerken van belang. Gedegen multidisciplinaire follow-up is geïndiceerd ter voorkoming van invaliderende en soms zelfs levensbedreigende complicaties. Wij beschrijven een patiëntje met een atypische presentatie van epileptische insulten en huidafwijkingen op basis van TS. Het TSC1-gen bleek afwijkend. TS werd ook bij de vader en een zusje van ons patiëntje gediagnosticeerd.
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Metagegevens
Titel
Tubereuze sclerose
Een case report en samenvatting van de literatuur
Auteurs
F. de Beer
C. A. Verburgh
F. A. A. Langius
W. H. J. P. Linssen
Publicatiedatum
01-03-2010
Uitgeverij
Bohn Stafleu van Loghum
Gepubliceerd in
Tijdschrift voor Kindergeneeskunde / Uitgave 3/2010
Print ISSN: 0376-7442
Elektronisch ISSN: 1875-6840
DOI
https://doi.org/10.1007/BF03089891

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