Tuberous sclerosis

ukuqina kwamathishu Tuberous - nesifo esiwufuzo, okuyinto kubangelwa izinguquko kuma-chromosome womuntu 16 no-9. Izimpawu zesifo avele onyakeni wokuqala wokuphila ngayo lapho usana. Lesi sifo libhekene Izilonda, iso, izinguquko esithinta izinzwa, anomalies kwezitho zangaphakathi. Emhlabeni ekhaleni ukuqubuka livela libomvana "butterfly" ukuma depigmentatsionnye indawo, sifinyelela phezulu 1 cm ububanzi. tuberous
ukuqina kwamathishu kubangela ukubukeka zingcwecwe fibrous emabunzini waxy bushelelezi
neziqu. Vela njengoba shagreen izindawo - esikhumbeni nge uphawu anolaka
ebusweni.

Ezansi isimila inhlamvu yeso wawubumba is okungenani neziqu kushintsha umbala iris iso. ukuqina kwamathishu Tuberous ezinganeni kuzibonakalisa ngesimo amajaqamba cishe ngokushesha emva kokuzalwa. Ukuquleka kabi ukunqampunwa, futhi kukhona onamandla kakhulu. Kancane kancane retardation engqondo, kuze kube idiocy. Abantu abagula ukuya contact, uthambekela Autism. ukuqina kwamathishu Tuberous kubangela okuvela polyp kanye izimila emathunjini, izinso, inhliziyo nezinye izitho zangaphakathi. Kwakheka "lezinyosi" ukukhanya. Uma usola ukuthi lesi sifo Kwenziwa resonance enuzi kanye computed tomography zobuchopho. inhlolovo inhlamvu yeso Kwenziwa oftalmografii.

A ezihlukahlukene ukubonakaliswa emitholampilo ye isifo zibangelwa ekubhujisweni sezicubu zezinzwa futhi fibrous ku izitho zangaphakathi.
Ucwaningo lubonisa ukuthi izimila zihlanganisa ngokweqile
inani lamaseli eyodwa noma izinhlobo eziningana. Uhlevane kungathinta gyrus
ubuchopho, le basal ganglia, brainstem, futhi cerebellum. Kuye
kwasendaweni yesimila okubangela iphimbo obstructive. Ngokuhamba kwesikhathi, uhlevane kungenziwa calcined noma zibe abulalayo iseli giant
astrocytoma. Ezimweni ezingavamile yentuthuko glioblastoma.

Kuze kube manje, ikhambi lesi sifo asikwazi aqokwe kuphela ukwelashwa lingaze. ukuqina kwamathishu Tuberous sitholakale nosana at 100,000. Ngibanjwe ukunqampunwa corticosteroids,
iziguli nitrazepam futhi clonazepam kunikezelwe. Lapho okubhekiswe ukwelashwa
ukuquleka retardation engqondo kungaba kancane
phumuza isikhashana. ukuqina kwamathishu Tuberous iphathwa usebenzisa ukudla ketogenic nge
ongaphakeme carbohydrate and amaprotheni kanye okusezingeni eliphezulu - amafutha. Lokhu kunikeza
kungenzeka ukunciphisa imvamisa sokuwa futhi lihambisana atsetazoplamidom esincishisiwe
ukuba ubuncane. Endabeni ka iphimbo shunt wenziwa. Ukuze ukulungiswa isikhumba wenziwa argon laser isikhumba iziguli ukulungiswa agcinwayo ukukhalipha, okuyinto ukuletha isikhumba neziqu tebuciko kwezingqinamba. Uma sithinta emaphashini aqokwe progesterone, inhliziyo ziphathwe ejenti zokwelapha. Esimeni ukopha kwezinso, ezisongela ukuphila eziphuthumayo nephrectomy wenziwa, elikhulu kwezinso simila phantom.

Izinkinga ezihambisana abanokukhubazeka ngokomzimba nangokwengqondo, kumele balungise khona ekusekeleni abantu abakhubazekile ngosizo ongudokotela wezifo zengqondo eSikhungweni. Iphuzu okubalulekile usizo ngokwengqondo
abazali ingane egulayo. Imizamo odokotela, odokotela bengqondo futhi abazali kumelwe babe
okuhloswe ngalo ukuba kuqeqeshwe ezimele ukudla, amakhono umzali
nokuhlanzeka nokunakekelwa ingane yena ethoyilethi. ukuqina kwamathishu Tuberous has
Izibikezelo mpofu ngenxa yokuphila. Ngokuvamile, imikhawulo isifo
ebulalayo. Ubude bempilo nale uphethwe iminyaka engaba ngu-5.