Bazal ganglionlar terimi ile beynin i\u00e7 k\u0131s\u0131mlar\u0131nda bulunan gri cevher \u00e7ekirdekleri kastedilir. Bu \u00e7ekirdekler hareketlerimizin uygun bir \u015fekilde ba\u015flat\u0131lmas\u0131, devaml\u0131l\u0131\u011f\u0131n\u0131n sa\u011flanmas\u0131, sonland\u0131r\u0131lmas\u0131 ve v\u00fccut b\u00f6l\u00fcmleri aras\u0131ndaki uyumdan sorumludurlar. Bu b\u00f6lgede olu\u015fabilecek hastal\u0131klar sonucunda genel olarak iki t\u00fcr bozukluk g\u00f6r\u00fcl\u00fcr. Hareketlerimizde iste\u011fimiz d\u0131\u015f\u0131nda artma veya azalma ortaya \u00e7\u0131kar. Bazen her iki bozukluk bir arada ayni ki\u015fide mevcut olabilir. Hareket bozukluklar\u0131 ile birlikte, hastalarda davran\u0131\u015f ve haf\u0131za problemleri de g\u00f6r\u00fclebilir. A\u015fa\u011f\u0131da en s\u0131k g\u00f6r\u00fclen bazal ganglion hastal\u0131klar\u0131 anlat\u0131lm\u0131\u015ft\u0131r.<\/p>\n
W\u0130LSON HASTALI\u011eI<\/p>\n
Wilson hastal\u0131\u011f\u0131 (hepatolentik\u00fcler dejenerasyon) ailevi (otozomal resesif) ge\u00e7i\u015fli nadir g\u00f6r\u00fclen bir Bak\u0131r metabolizma bozuklu\u011fudur. Hastal\u0131k temel olarak karaci\u011feri tutar ve akut veya kronik hepatit ard\u0131ndan siroz geli\u015fir. Hastalarda Bak\u0131r\u0131 ba\u011flayan serum enzimi olan seruloplasmin %80\u201390 oran\u0131nda azalm\u0131\u015ft\u0131r. Karaci\u011ferde metabolizma olan bak\u0131r safra yollar\u0131 ile at\u0131lamamaktad\u0131r. Bu nedenle bak\u0131r \u00f6nce karaci\u011ferde birikir, daha sonra karaci\u011ferin depolama yetene\u011fi a\u015f\u0131ld\u0131\u011f\u0131nda v\u00fccudun beyin, g\u00f6z ve b\u00f6brek gibi organlar\u0131nda birikerek bu organlar\u0131n \u00e7al\u0131\u015fmas\u0131n\u0131 bozar.<\/p>\n
BEL\u0130RT\u0130LER\u0130<\/p>\n
Ba\u015flang\u0131\u00e7 ya\u015f\u0131 4\u201350 aras\u0131nda de\u011fi\u015fse de genellikle 25 ya\u015f\u0131ndan \u00f6nce g\u00f6r\u00fcl\u00fcr. Hastal\u0131\u011f\u0131n ba\u015flang\u0131\u00e7 bulgular\u0131 genellikle sinir sisteminin etkilenmesi sonucu ortaya \u00e7\u0131kar. De\u011fi\u015fik klinik tablolara yol a\u00e7abilir. Sarho\u015f gibi konu\u015fma, kol ve bacaklarda istek d\u0131\u015f\u0131 hareketler veya kas\u0131lmalar, dengesiz y\u00fcr\u00fcme, ba\u015f ve t\u00fcm v\u00fccudu tutan titreme g\u00f6r\u00fclebilir. G\u00f6z\u00fcn saydam tabakas\u0131nda bak\u0131r birikebilir ve hastal\u0131\u011f\u0131n te\u015fhisine yard\u0131mc\u0131 olan gri ye\u015fil renkli bir halka olan Kayser-Fleischer halkas\u0131na yol a\u00e7abilir.<\/p>\n
TANI<\/p>\n
Te\u015fhis i\u00e7in Kayser-Fleischer halkas\u0131n\u0131n varl\u0131\u011f\u0131, serum seruloplazmin de\u011ferinin d\u00fc\u015f\u00fckl\u00fc\u011f\u00fc, serum bak\u0131r d\u00fczeyinin d\u00fc\u015f\u00fckl\u00fc\u011f\u00fc ve 24 Saatlik idrarda at\u0131lan bak\u0131r miktar\u0131n\u0131n y\u00fcksekli\u011fi aran\u0131r. \u015e\u00fcpheli vakalarda kesin te\u015fhis koymak i\u00e7in karaci\u011fer biyopsisi gerekebilir.<\/p>\n
TEDAV\u0130<\/p>\n
Tedaviye tan\u0131 konulduktan sonra hemen ba\u015flan\u0131lmal\u0131d\u0131r. Bak\u0131rdan zengin g\u0131dalardan ka\u00e7\u0131nan diyet(\u00e7ikolata, karaci\u011fer, mantar, f\u0131nd\u0131k, midye vb.) yan\u0131nda v\u00fccuttaki bak\u0131r\u0131 uzakla\u015ft\u0131ran d-penisillamine, v\u00fccutta bak\u0131r ile rekabete giren \u00e7inko s\u00fclfat gibi ila\u00e7lar kullan\u0131lmal\u0131d\u0131r.<\/p>\n
HALLERVORDEN-SPATZ HASTALI\u011eI<\/p>\n
Hallervorden-Spatz hastal\u0131\u011f\u0131 ender rastlanan, beyinde demir birikimine ba\u011fl\u0131 olarak ortaya \u00e7\u0131kan ilerleyici ve zamanla beyinde y\u0131k\u0131ma yol a\u00e7an bir hastal\u0131kt\u0131r. Genetik olarak otozomal resesif ge\u00e7i\u015flidir.<\/p>\n
BEL\u0130RT\u0130LER\u0130<\/p>\n
Genellikle dik durmada g\u00fc\u00e7l\u00fck ve istem d\u0131\u015f\u0131 kas\u0131lmalar, konu\u015fmada g\u00fc\u00e7l\u00fck gibi hareket bozukluklar\u0131 g\u00f6r\u00fcl\u00fcr. \u00c7ocukluk ve ergenlik \u00e7a\u011f\u0131nda ba\u015flayan erken tip ve eri\u015fkin ya\u015flarda ba\u015flayan ge\u00e7 tip olmak \u00fczere iki ayr\u0131 ya\u015f grubunda g\u00f6r\u00fcl\u00fcr. Hasta ki\u015filerde pantotenat kinaz enzimi bozuklu\u011fu mevcuttur.<\/p>\n
TANI<\/p>\n
Tan\u0131 genellikle klinik bulgular ve manyetik rezonans g\u00f6r\u00fcnt\u00fcleme (MRI) ile konur. Beyin magnetik rezonans g\u00f6r\u00fcnt\u00fclerinde kaplan g\u00f6z\u00fc bulgusu tipiktir.<\/p>\n
TEDAV\u0130<\/p>\n
Hastal\u0131\u011fa \u00f6zel bir tedavi y\u00f6ntemi yoktur. Sadece \u015fikayetlere y\u00f6nelik rahatlat\u0131c\u0131 ila\u00e7lar kullan\u0131lmaktad\u0131r.<\/p>\n
FAHR SENDROMU<\/p>\n
Fahr hastal\u0131\u011f\u0131; beyin ve beyincik dokusu i\u00e7erisinde kalsiyum birikmesine ba\u011fl\u0131 olarak ortaya \u00e7\u0131kan bir hastal\u0131kt\u0131r.<\/p>\n
BEL\u0130RT\u0130LER\u0130<\/p>\n
Kaslarda sertlik(rijidite), hareketlerde yava\u015fl\u0131k, ellerde titreme, dengesiz y\u00fcr\u00fcme gibi hareket bozukluklar\u0131 yan\u0131 s\u0131ra haf\u0131za kayb\u0131 ve ruhsal bozukluklar ve d\u00fc\u015f\u00fck serum kalsiyum de\u011ferleri olan hastalarda sara n\u00f6beti gibi belirtilere yol a\u00e7ar.<\/p>\n
TANI<\/p>\n
Parotiroid bezinin hastal\u0131klar\u0131n\u0131n sonucunda veya ailesel olarak g\u00f6r\u00fclebilir. Te\u015fhis genellikle klinik tablonun yan\u0131nda bilgisayarl\u0131 beyin tomografisinde yayg\u0131n kalsiyum birikiminin g\u00f6r\u00fclmesi ile konur.<\/p>\n
TEDAV\u0130<\/p>\n
Paratiroid bezinde hastal\u0131\u011f\u0131 bulunan ki\u015filerin Ameliyat veya ila\u00e7la tedavisi, serum kalsiyum d\u00fczeylerinin normal s\u0131n\u0131rlar i\u00e7erisinde tutulmaya \u00e7al\u0131\u015f\u0131lmas\u0131 tedavide uygulanabilecek metotlard\u0131r.<\/p>\n
KORT\u0130KOBASAL GANGL\u0130ON\u0130K DEJENERASYON<\/p>\n
Kortikobazal ganglionik dejenerasyon merkezi sinir sisteminde ilerleyici hastal\u0131\u011fa yol a\u00e7an nadir bir n\u00f6rolojik hastal\u0131kt\u0131r. \u0130leri ya\u015flarda g\u00f6r\u00fcl\u00fcr. Hastal\u0131k belirtileri ba\u015fl\u0131ca hastal\u0131\u011fa ad\u0131n\u0131 verildi\u011fi gibi beynin korteks tabakas\u0131n\u0131n ve beyin i\u00e7inde yer alan gri cevher \u00e7ekirdeklerinin tutulmas\u0131 sonucu ortaya \u00e7\u0131karlar.<\/p>\n
BEL\u0130RT\u0130LER\u0130<\/p>\n
Korteks tabakas\u0131n\u0131n tutulmas\u0131 sonucu duyu kay\u0131plar\u0131, el becerisinde azalma ve bili\u015fsel yeteneklerde azalma(muhakeme ve haf\u0131za kayb\u0131) ani s\u0131\u00e7ramalar (myoklonus)g\u00f6r\u00fcl\u00fcr. Bazal ganglion tutulu\u015funa ba\u011fl\u0131 olarak ise hareketlerde azalma kaslarda rijidite t\u00fcr\u00fc sertlik, titreme ve a\u015f\u0131r\u0131 kas\u0131lma(distoni) ortaya \u00e7\u0131kar. Klinik bulgular\u0131 Parkinson hastal\u0131\u011f\u0131 ile benzerlikler g\u00f6sterdi\u011finden her iki hastal\u0131\u011f\u0131n birbirinden ay\u0131rt edilmesi \u00f6nemlidir.<\/p>\n
TANI<\/p>\n
Tan\u0131 i\u00e7in \u00f6zel bir test yoktur ve ancak otopside konulur.<\/p>\n
MULT\u0130PLE S\u0130STEM ATROF\u0130S\u0130<\/p>\n
Multple sistem atrofisi Parkinson hastal\u0131\u011f\u0131na benzeyen klinik bulgularla ortaya \u00e7\u0131kan ama L-dopa tedavisine cevap vermemesi ile ayr\u0131lan h\u0131zl\u0131 k\u00f6t\u00fcle\u015fmenin g\u00f6r\u00fcld\u00fc\u011f\u00fc bir ba\u015fka hareket hastal\u0131\u011f\u0131 grubuna verilen add\u0131r.<\/p>\n
BEL\u0130RT\u0130LERT\u0130<\/p>\n
Parkinson hastal\u0131\u011f\u0131na benzer yava\u015flama, rijidite tipi kas sertli\u011fi yan\u0131nda dengesizlik, kan bas\u0131nc\u0131nda d\u00fc\u015f\u00fckl\u00fck veya idrar ka\u00e7\u0131rma gibi otonomik sinir sistemi bozukluklar\u0131, kas incelmesi gibi belirtilerin biri veya birka\u00e7\u0131 birlikte g\u00f6r\u00fcl\u00fcr. <\/p>\n
TANI<\/p>\n
Tan\u0131 ancak otopsi ile kesin olarak konulabilir. Belirgin bir tedavisi yoktur.<\/p>\n
HAZIRLAYAN; Dr. \u00d6zlem B\u0130ZPINAR, Do\u00e7. Dr. M Fevzi \u00d6ZTEK\u0130N<\/p>\n
KAYNAKLAR1-Differential diagnosis and treatment of movement disorders. Ed. E. Tolosa, W. C. Koller and O. S. Gershanik. 1998 Butterworth-Heinemann.<\/p>\n
2-Wilson’s disease. Differential diagnosis and treatment of movement disorders. Ed. E. Tolosa, W. C. Koller and O. S. Gershanik. p 59-62. 1998 Butterworth-Heinemann<\/p>\n
3- Awashti R et al. Diffusion Tensor MR Imaging in Children with Pantothenate Kinase–Associated Neurodegeneration with Brain Iron Accumulation and Their Siblings. October 22, 2009 AJNR. A1849<\/p>\n
4- Victor M, Ropper AH (2001) Calcification of vessels in basal ganglia and cerebellum (hypoparaTHYroidism and Fahr syndrome). In: Victor M, Ropper AH (eds) Principles of neurology. McGraw-Hill, New York, pp 1032\u20131033<\/p>\n
5- Stefanova N, et al Multiple system atrophy: an update. Lancet Neurol. 2009 Dec;8(12):1172\u20138<\/p>\n","protected":false},"excerpt":{"rendered":"
Bazal ganglionlar terimi ile beynin i\u00e7 k\u0131s\u0131mlar\u0131nda bulunan gri cevher \u00e7ekirdekleri kastedilir. Bu \u00e7ekirdekler hareketlerimizin uygun bir \u015fekilde ba\u015flat\u0131lmas\u0131, devaml\u0131l\u0131\u011f\u0131n\u0131n sa\u011flanmas\u0131, sonland\u0131r\u0131lmas\u0131 ve v\u00fccut b\u00f6l\u00fcmleri aras\u0131ndaki uyumdan sorumludurlar. Bu b\u00f6lgede olu\u015fabilecek hastal\u0131klar sonucunda genel olarak iki t\u00fcr bozukluk g\u00f6r\u00fcl\u00fcr. Hareketlerimizde iste\u011fimiz d\u0131\u015f\u0131nda artma veya azalma ortaya \u00e7\u0131kar. Bazen her iki bozukluk bir arada ayni ki\u015fide mevcut olabilir. Hareket bozukluklar\u0131 ile[Devam\u0131n\u0131 Oku…]<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[22524],"tags":[23100,23101,23103],"_links":{"self":[{"href":"https:\/\/gncz.net\/index.php\/wp-json\/wp\/v2\/posts\/13210"}],"collection":[{"href":"https:\/\/gncz.net\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/gncz.net\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/gncz.net\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/gncz.net\/index.php\/wp-json\/wp\/v2\/comments?post=13210"}],"version-history":[{"count":0,"href":"https:\/\/gncz.net\/index.php\/wp-json\/wp\/v2\/posts\/13210\/revisions"}],"wp:attachment":[{"href":"https:\/\/gncz.net\/index.php\/wp-json\/wp\/v2\/media?parent=13210"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/gncz.net\/index.php\/wp-json\/wp\/v2\/categories?post=13210"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/gncz.net\/index.php\/wp-json\/wp\/v2\/tags?post=13210"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}