ohtahaara syndrome

aadyakaala infanttail epileptik encephalopathy (aii. iii. iii. iii) ennum ariyappedunna ohtahaara syndrome (oo. ezz) oru purogamana apasmara encephalopathy aanu. jeevithathinte aadya kurachu masangalkkullil tonic spaasmukalum bhagikamaaya pidichedukkalukalum syndrome baahyamaayi savisheshatha nalkunnu, koodaathe oru electroencephalogramile (iii. iii. jii) pottitherikkunna pravartthanatthinte maathrkayil ninnu athinte kooduthal vipulamaaya peru labhikkunnu. ithu valare durbalappeduthunna purogamana neurological disorderaanu, athil bhedamaakkaanaavaatha pidichedukkalukalum gurutharamaaya boudhika vaikalyangalum ulppedunnu. pala kesukalilum gadanaaparamaaya mastishka shatham undengilum orotta kaaranavum kandethiyitla.
avatharanam.
ohatahaara syndrome apoorvavum praayavumaayi bandhapetta apasmara encephalopathy aadyakaalamaanu, jeevithathinte aadya moonnu maasathinullil, palappozhum aadya patthu divasathinullil pidichedukkal aarambikkunnu. oesu kesukal palathum, ennaal ellaam allah, vestt syndrome, lenox-gaasttautt syndrome ennee mattu sesher disordezhsukalaayi parinamikkunnu.
ooo. esinte praadhamika baahya prakadanamaanu apasmarangal, saadhaaranayaayi tonic apasmarangalaayi avatharippikkunnu (kaikaalukal pettennu kaduppamulla oru saamaanyavalkkaricha apasmaram). bhagikamaaya pidichedukkalukal, shishukkalude malabandhangalude koottangal, apoorvvamaayi myoclonic pidichedukkalukal enniva sambhavikkaavunna mattu pidichedukkal tharangalil ulppedunnu. apasmaarangalkk purame, oesu ulla kuttikal aazhathilulla maanasikavum shaareerikavumaaya vaikalyangal prakadippikkunnu.
vaidyashaasthraparamaayi, oru eejil "burst saprashan" paatten aanu oesinte savisheshatha. eee paattenil uyarnna volteju spike taranga discharge thudarnnu cheria mastishka taranga pravartthanavum ulppedunnu.
1976ll ithu thiricharinja japanese neurologist shansuke ohtahaarayude (1930-2013) perilaanu ithu ariyappedunnathu.
adayaalangalum lakshanangalum.
oesu ulla sthreekalilum purushanmaarilum urangumbozho unarnnirikkumbozho rogalakshanangal anubhavappedaam. jeevithathinte aadya 2 varshathinullil niravadhi kuttikal oesu baadhichu marikkumbol athijeevikkunnavar amithamaya ksheenam, bhakshanam nalkaan budhimuttu, nench anubadha, mandagathiyilulla vikasana purogathi thudangiya shaareerikavum vaijnjaanikavumaaya vaikalyangal nilanirthunnu. shishukkalude janana charithravum thalayude valipavum saadhaaranayaayi saadhaaranamaanenkilum, microsephaly sambhavikkam. discainetic chalanangalum asaadhaaranamaaya rettu-syndrome roopavum polulla adhika adayaalangalode chila janithaka vakabhedangal prakadamaakunnu.
kaaranagal.
oo. essinte oru kaaranavum kandethiyitla. mikka kesukalilum, thalachorinte rund ardhagolangaludeyum gurutharamaaya ksheenam undu. hemimegalensephaly, porensephaly, icardy syndrome, olivari-dentate dysplasia, mamillary bodikal, leanier sebatius nevez syndrome, cerebral displassis, phokkal courtical dysplasia thudangiya cerebral vaikalyangal samshayaaspadamaaya kaaranangalayi rekhappeduthiyittundu.
pathophysiology.
janithaka bandhamonnum sthaapichittillennu thudakkathil prasidheekarichirunnavum, athinusesham niravadhi jeenukal ohatahaara syndrome aayi bandhappettirikkunnu. arx", "cdkl5", "slc25a22", "stxbp1", "sptan1", "kcnq2", "arhgef9", "pcdh19", "pnkp", "" scn2a "," "plcb1", "" scn8a "," st3gal3, tbc1d24, brat1 ennivayile mutationukalumaayi ithu bandhappettirikkam.
mitocondrial disordezhs, noonn-kettotik hyper glycinamia, ensaiminte kuravu enniva kaaranangalayi avyakthamaayi thudarunnundengilum, palappozhum, eee rogathinte moolakaaranam oru antharleenamaaya metaboolik syndrome aanu. avarude samvidaanangal poornnamaayum ariyappedunnilla.
roganirnayam.
klinikkal avatharanatheyum prarambha samayathe adisthaanamaakkiyulla saadhaarana electroencephalography paattenukaleyum adisthaanamaakkiyullathaanu roganirnayam. saadhaaranayaayi, apasmaarangaludeyum thalarchayudeyum arambham oesu roganirnayathe soochippikkunnu, athesamayam emaaraiykkum asaadhaaranamaaya eeji "burst saprashan" paatten sthireekarikkaan kazhiyum. emm. aarr. aii imaging theernnathinu sesham chromosomal microare vishakalanathodukoodiya janithaka parisodhanayum thudarnnu apasmara jeane panalo muzhuvan exome sequencingo pariganikkaam.
vestt syndrome allengil lenox-gaasttautt syndrome polulla mattu apasmara encephalopathy rogangal thammilulla vyathyastha roganirnayangal myoclonic pidichedukkalukalum eejile spike-aandu-wave paattenukalile vyathyaasangalum kondu verthirichariyappedunnu.
chikitsa.
chikilsayude kaazhchappaad moshamaan. aanti-konvalsant marunnukalum glucocorticoid stiroyidukalum pidichedukkal niyantrikkaan upayogichekkaam, pakshe avayude falaprapti parimithamaanu. mikka chikilsakalum lakshanangalumaayum dainamdina jeevithavumaayum bandhappettirikkunnu. phokkal braine shathangalumaayi bandhapetta kesukalil apasmara sasthrakriya allengil functional hemispherectomy enniva pariganikkaam. anubadha, rakthasraavam, kazhcha nashtappedal, samsaram, ormmashakthi allengil chalanam enniva apakadasaadhyatha gadakangalil ulppedunnu.
oesu ullavarkkulla therapy sepsure pravartthanatthinte theevrathaye adisthaanamaakkiyullathum pinthunaykkunna swabhaavamullathumaanu. asaadhaaranamaaya peshikalude toonn, wier allengil shwaasakosha prasnangalkkulla chikitsa ithil ulppedaam. rogalakshanangal kuraykkunnathinu oru kettojenik diet nirddeshikkappedaam. kutty moonnu vayassinu sesham athijeevichaal, vagus naadi uthejanam pariganikkaam. garbhinikalaya ammamarkkulla prathirodha reethikalekkurichu sameepakaala kandethalukalonnum soochippikkunnilla.
pravachanam.
oesu ulla sisukkalil roganirnayam moshamaan, koodaathe apasmaram, dvitheeya lakshanangalude phalangal, ayuss (3 vayass vare) enniva niyanthrikkunnathiloode ithu savisheshatha nalkaam. athijeevichavarkku gurutharamaaya psychomoter vaikalyangalund, avar pinthunaykkaayi avarude kairtakere aasrayikkunnu. rogalakshanangal vashalaakukayo vikasikkukayo cheiyunnathinaal oesu ulla shishukkalude kudumbaangalkk oru palliative cair teamumayi koodiyaalochikkaam. roganirnayam, pneumonia allengil motor vaikalyangal moolamulla mattu sankeernathakal enniva moolamaanu maranam palappozhum sambhavikkunnath.
hemispherectomy shasthrakriyaykk sesham oo. essil ninnu sukham praapikkanulla saadhyathakal anukoolamaanennu theliyikkappettittund, rogikalkku vikasanathil "catch upp" anubhavappedunnu.
epidemiology.
jappanil 1/100 000 jananangalum yuu. esil 1/50,000 jananangalum undayathaayi kanakkaakkappedunnu.keey. motham 100 kesukal report cheyyappettittunde ithu oru kuranja vilayiruthalaayirikkam. neratthe maranamadanja oo. ezz. navajaathasisukkal clinico-igg roganirnayathil ninnu rakshappettekkaam. purusha kesukalaanu sthreekalil alpam kooduthal.
nilavile gaveshanam.
nilavil, apasmaarathinte pravartthanam kuraykkunnathil hye-defenision (echdi) transcranial direct-karant stimuleshan (echdi-tdc) yude falaprapti parisodhikkaan oru klinikkal trial maathrame nadathiyittulloo.
sradheyamaaya kesukal.
britiish kansarvetteevu party muun nethaavum yukeyude pradhaanamanthriyumaaya david cameroninte makan ivaan cameron eee avasthayum cerebral palsy ullavanayi janichu. 2009 februvari februvari pithaav prathipaksha neethaavaayirunnappol aaram vayassil addeham antharichu.
doow. vilyam echu. american doktaraaya thomasinu eee avasthayulla rund penmakkalundu. oru pii. bii. ezz abhimukhathil addeham avarekkurichu samsaarichu.

