
cerebrondineous zanthomatosis

cerebrondinus zanthomatosis, jise cerebral collustrosis bhee kahaa jaataa haye, zanthomatosis kaa ack autosomal aprabhaavi roop haye. yeh aanuvanshik vikaaron key ack samooh key bheetar aataa haye jise leucodistrophy kahaa jaataa haye.
prastuti.
mastishk aur anya ootakon mein collestanol key roop mein jaane jaane vaale ack steroid key jamaav seey judaa ack viraasat mein milaa vikaar aur plasma mein collestroll key uchch star key saath lekin samanya kull collestroll star key saath; isaki visheshta yuvavastha key baad shuru honey vaale pragatisheel cerebeller attaxia aur kishore motiyabind, kishore yaa shishu kii shuruat, puraane dast, bachpan kii tantrika sambandhi kamee, aur tendinius yaa tuberus zanthoma haye.
aanuvanshiki.
ctx gunasutra 2kyu33-qtr parr sthit sipe27aeye1 jeane mein utparivartan seey judaa huaa haye. yeh vikaar autosomal aprabhaavi tareeke seey viraasat mein milaa haye. iska matlab haye kii vikaar key liye jimmedaar doshpurna jeane ack autosome parr sthit haye (gunasutra 2 ack autosome haye), aur vikaar key saath paida honey key liye doshpurna jeane kii dou pratiyon (pratyek maataa-pitaa seey viraasat mein millie ack) kii aavashyakta hoti haye. autosomal aprabhaavi vikaar vaale vyakti key maataa-pitaa donon mein doshpurna jeane kii ack prati hoti haye, lekin way aamtaur parr vikaar key kissy bhee sanket yaa lakshan kaa anubhav naheen karate hain.
nidan.
seeram collestenol kaa uchch star see. tii. aiks. kaa nidan haye. 27-hydroxy collestroll aur 7-alfa hydroxy collestroll key vaikalpik vishleshan kaa upayog kiya jaa sakata haye. sipe27aeye1 jeane kaa aanuvanshik pareekshan pushti karane vaalaa haye aur lakshan vishisht jeane panels (aanuvanshik netra roga, attaxia, dementia) key hisse key roop mein pahali pankti key pareekshan key roop mein teji seey upayog kiya jaa rhaa haye.
upchaar.
maanak upchaar chenodioxicolic acid (see. dee. see. aeye.) pratisthaapan chikitsa haye. seeram collestroll key star parr bhee nazar rakhee jaati haye. yadi hypercholesterolemia koo see. dee. see. aeye. key saath niyantrit naheen kiya jaataa haye, tou ack aich. aim. jee.-see. oh. aeye. reductage avarodhak ("statin" jaise symvastatin) kaa bhee upayog kiya jaa sakata haye.
upnaam.
ise pahale "vaine boggert-sherer-epstein syndrome" key roop mein jaanaa jaataa thaa.

