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Do fakomatoz przebiegających z padaczk lekooporną należy stwardnienie guzowate oraz zespół Sturge’a-Webera.

Stwardnienie guzowate (TS, tuberous sclerosis) jest schorzeniem wielonarządowym, uwarunkowanym genetycznie, w przebiegu którego występują zmiany o typie hamartoma i najczęściej łagodne rozrosty nowotworowe. Chorobę wywołują mutacje w obrębie genów supresorowych TSC1 i TSC2, kodujących hamartynę i tuberynę. Podstawowym objawem klinicznym są napady padaczkowe (ok. 90% przypadków) i upośledzenie umysłowe (ok. 50% przypadków). W przebiegu TS występują zaburzenia budowy warstwowej kory oraz guzy korowe. Guzy korowe złożone są z komórek olbrzymich, neuronów dysmorficznych (ryc. 3.29) i komórek balonowatych, często z towarzyszącą glejozą i zwapnieniami. Występują również zaburzenia struktury warstwowej kory mózgu. Komórki olbrzymie i balonowate można stwierdzić także w obrębie istoty białej (ryc. 3.30).

Rycina 3.29. Guz korowy w TS złożony z komórek olbrzymich i neuronów dysmorficznych (H&E).

Rycina 3.30. Guz korowy w TS. Komórki olbrzymie i balonowate w obrębie istoty białej (H&E).

Zespół Sturge’a-Webera cechuje współistnienie zmian naczyniowych w obrębie mózgu i skóry. Cechą charakterystyczną jest występowanie naczyniaka płaskiego skóry twarzy oraz zmian angiomatycznych w oponach. W powierzchownych warstwach kory mózgu, przylegających do zmian naczyniowych w oponach, występują liczne zwapnienia drobnych naczyń krwionośnych oraz złogi hemosyderyny. Zmianom tym mogą towarzyszyć zaniki kory mózgu o różnym nasileniu z rozrostem odczynowym astrogleju włóknistego. Często występują malformacje rozwojowe kory mózgu, w tym zmiany dysplastyczne FCD typ IIIc lub/i polimikrogyria, które prawdopodobnie odgrywają ważną rolę w rozwoju padaczki [78–80].

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