Psychiatr. pro Praxi, 2004; 6: 317-321

Creutzfeldtova-Jakobova nemoc, kazuistika familiární formy onemocnění

MUDr. Vanda Franková, MUDr. Iveta Serbinová, MUDr. Radoslav Matěj, MUDr. František Koukolík, DrSc., MUDr. Jakub Sikora, MUDr. Tomáš Belšan

Published: December 31, 2004  Show citation

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Franková V, Serbinová I, Matěj R, Koukolík F, Sikora J, Belšan T. Creutzfeldtova-Jakobova nemoc, kazuistika familiární formy onemocnění. Psychiatr. praxi. 2004;9(6):317-321.

MUDr. Vanda Franková<sup>1</sup>, MUDr. Iveta Serbinová<sup>1</sup>, MUDr. Radoslav Matěj<sup>2,3</sup>,

MUDr. František Koukolík, DrSc.<sup>2</sup>, MUDr. Jakub Sikora<sup>3</sup>, MUDr. Tomáš Belšan<sup>4</sup>

<sup>1</sup>Psychiatrická léčebna Dobřany <sup>2</sup>Národní referenční laboratoř pro diagnostiku lidských TSE/CJD

(NRL TSE/CJD) při Oddělení patologie Fakultní Thomayerovy nemocnice Praha <sup>3</sup>Ústav dědičných metabolických poruch 1. LF UK a VFN, Praha <sup>4</sup>Radiodiagnostické oddělení FN Motol Praha

Článek prezentuje kazuistiku 46letého zemřelého pana S. V klinickém obraze dominovala rychle progredující demence a neurologické příznaky. V rámci diferenciální diagnostiky se zvažovala i Creutzfeldtova-Jakobova nemoc (CJN). Vzhledem k nepřítomnosti typických změn na EEG se však klinici přiklonili k diagnóze frontotemporální demence. Zjištěný podobný průběh postižení u otce pana S. vedl k úvahám o dědičnosti nemoci. Vzhledem k ne zcela jasné diagnóze byla neuropatologická diagnostika provedena na specializovaném pracovišti Fakultní Thomayerovy nemocnice. Neuropatolog diagnostikoval CJN. Molekulárně patologickým vyšetřením genu pro lidský prionový protein se podařilo potvrdit genetickou formu onemocnění.

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