Welcome to Scribd, the world's digital library. Read, publish, and share books and documents. See more
Download
Standard view
Full view
of .
Look up keyword
Like this
0Activity
0 of .
Results for:
No results containing your search query
P. 1
Idiopathic Myoclonic Epilepsy in Infancy

Idiopathic Myoclonic Epilepsy in Infancy

Ratings: (0)|Views: 7|Likes:
Published by Dragutin Petric

More info:

Published by: Dragutin Petric on Sep 11, 2013
Copyright:Attribution Non-commercial

Availability:

Read on Scribd mobile: iPhone, iPad and Android.
download as PDF, TXT or read online from Scribd
See more
See less

09/11/2013

pdf

text

original

 
Samo tekstualna inačica
 
OVO JE ZA Google predmemorijahttp://www.medlink.com/web_ 
 
content/index/MLT002SI.asp 
 
. Da JEkratki space pov
 
ijseni web Stranice kako JE izgledala Dana 26. kol 2013 11:07:40 GMT.Trenutna Stranica
 
možda sebi u međuv
 
remenu promijenila.Saznajte Više 
 
su sav
 
 jet: da biste brzo pronašli svoj ​pojam ZA Pretraživanje nema ovoj Stranici, pritisnite
Ctrl + F
BSG
-F
(Mac) i upotrijebite traku ZA traženje. 
Idiopatska epilepsija epileptički u povojima
 
Suradnici
Charlotte Dravet MD, autor. Dr. Dravet, bivši epileptologist od centra mjesta Saint Paul-HenriHopital Gastaut u Marseilleu, Francuska, i aktualni počasni savjetnik u djetinjstvu neurološke ipsihijatrijskom odjelu Policlinico A Gemelli u R
 
imu, Italija, je dobio honorariums od Biocodex zagovornog angažmane i savjetodavni odbor Članstvo u. Michelle zavod MD, autor. Dr. zavod, bivši epileptologist od centra mjesta Saint Paul-HenriHopital Gastaut u Marseilleu, Francuska, nema relevantnih financijskih odnosa za otkriti. Jerome Engel Jr. MD PhD, editor. Dr. Engel Škole David Gef 
 
fen m
 
edicine na University of California, Los Angeles, dobili naknadu od Medtronics za konzultantske rada. 
Bivši autor (i)
Fritz Dreif 
 
uss MD (izvorni autor) 
Datumi objavljivanja
Izvorno objavio 18. listopada 1993; zadnji put izmijenjena 29. veljača 2012; istekne 29 veljača2015 
Sinonimi
Benigna epilepsija epileptički u povojima, epileptički epilepsije u ranom djetinjstvu; MEI 
Ključne točke
 
idiopatska epileptičkiepilepsijeu ranom djetinjstvu obuhvaća dva oblika: jedan sa spontanimnapadaja i jedna sref 
 
leks napadaji.• idiopatska epilepsija epileptički u djetinjstvu nije zapravo benigni u svim oboljele djece, alinapadi su self-ograničena na ref 
 
leksnom obliku i pharmacoresponsive u spontanom obliku.• Usprkos potpune remisije od napadaja, dugoročno kognitivna ishod je nenorm
 
alan u oko 30%bolesnika, obično u rasponu od blagog sm
 
anjenja vrijednosti i rijetko teške. Čimbenici ovognepovoljnog ishoda ostaju nepoznati.• idiopatska myolconic epilepsije u ranom djetinjstvu dionica zajedničke osobine s drugimidioopatska generaliziranih i žarišne epilepsije, i Etiologija čini se da je genetski. Međutim, jošnema obiteljski slučajevi prijavljeni. 
Povijesna bilješka i nomenklatur
 
a
Benigni epileptičkiepilepsijeu ranom djetinjstvu nije jasno identif 
 
iciran prije prvog opisa straneDravet i ured u 1981(Dravet i ured 1981). R
 
ano benigna epilepsija epileptički je prethodnoizvijestio je u 3 djece u proučavanju ranog nastupaju epilepsija(Dalla Bernardina et al 1978), alibez poznati follow-up. Mnogi drugi slučajevi su od tada objavljena. Nedavno, povoljnost odsindroma je pitanje, što je dovelo do promjene u svoje ime "epileptički epilepsije u ranomdjetinjstvu"(Engel 2006; Zuberi i O'R
 
eagan 2006). Međutim
 
, taj naziv nije prikladno jer nedopušta da se razlikuje od drugih epilepsija sa myoclonias početkom u istoj dobi (teškimepileptički epilepsije u ranom djetinjstvu, epileptički-astatičan epilepsije, sim
 
ptom
 
atskeepilepsije s myoclonias). "Idiopatska epilepsija epileptički u povojima" je predložila(Dravet iVigevano 2007), međutim
 
, posljednje izvješćeILAER
 
adna skupina predlaže zamjenu "idiopatska"s "genetski", dajući usku definiciju genetskog(Berg et al 2010). Stoga, idiopatska epilepsijaepileptički u djetinjstvu trebao biti sm
 
 ješten među epilepsija nepoznate etiologije(Guerrini et al2012). Neki autori su opisali slučajeve s refleksnih myoclonias izazvane bukom ili dodirivanja te
Print to PDF without this message by purchasing novaPDF (http://www.novapdf.com/)
 
su predložili da razlučiti dvije zasebne cjeline, a druga se zove "ref 
 
leks epileptički epilepsije uranom djetinjstvu"(Vigevano et al 1997). Nekoliko slučajeva s f 
 
otoosjetljivi benigne epilepsijeepileptički su nedavno izvijestili(Capovilla et al 2007). Međutim, autori ovog kliničkog sažetkune ova distinkcija je potrebno, i svi slučajevi opisani su kao idiopatska epilepsija epileptički upovojim
 
a.
Kliničke manifestacije
Idiopatska epileptičkie
 
pilepsijeu ranom djetinjstvu karakterizira kratkih epileptički napadi unormalnim
 
dojenčad u dobi od 6 mjeseci do 3 godine. R
 
aniji početak je rijetkost, iako je kasnijenastupa (do 4 godine 8 m
 
 jeseci) je opisano. Kad se spom
 
inje spol, dječaci nadmašiti djevojke:103 u odnosu na 60. Obiteljska povijest epilepsije ili
 
ebrilne konvulzijeje prisutan u oko 50%slučajeva. Pojavafebrilne konvulzijeje bio prijavljen u 20% bolesnika. Oni su uvijek bili rijetki, jednostavni f 
 
ebrilne konvulzije, obično prethodi početak myoclonias. U jednom slučaju, Bolesnikdvije izolirane noćnih napadaja orofacijalne 6 mjeseci prije pojave m
 
yoclonias(Darra et al 2006).U epileptički napadi uključuju gornje udove i glavu, iako rijetko donjih ekstremiteta. Njihovintenzitet je prom
 
 jenjiva, rijetko izaziva pad. Kod beba koje nisu lako opisati, roditelji izvješćuju"grčeve" ili im
 
se javljaju nekoliko puta dnevno u nepravilnim i nepredvidivim vremenim
 
a "glavakimajući glavom.". Oni nisu preferiraju buđenja, ali oni mogu biti izazvani iznenadnom
 
bukom ilinaglog kontakta. U pravilu, oni su vrlo kratko (1-3 sekunde). Stanje svijesti je teško procijeniti,ali su izolirani napadi ne prekidaju aktivnost. Tek kada su se grupiraju u klastere od 2 ili 3pseudorhythmically ponovljenih elemenata, u trajanju do 5 do 10 sekundi, postoji blagiporemećaj stanja svijesti. Oni su više ili manje mase, uključujući os tijela i udova, izazivajućipad glavu prem
 
a gore i prema van-kretanje gornjeg ekstremiteta, s fleksije donjih ekstremiteta,a ponekad i valjanje od očne jabučice. Najblaži oblici izazvati samo kratak naprijed kretanjeglave, ili čak jednostavan zatvaramo oči. U početku, razvoj nastavlja norm
 
alno, a roditelji ipedijatri imaju tendenciju da ne uzimaju u obzir ove pokrete kao patološke događaja.KadEEGse izvodi, to može biti normalan ako se ne stane epileptički je zabilježena. Alimyoclonias su uvijek povezani s brzim
 
generaliziranih smvalova i valova polyspike na više od3 Hz, koje su više ili m
 
anje redovito, u trajanju od 1 do 3 sekunde. Tijekom
 
pospanost, tu jepoboljšanje od m
 
yoclonias koji se obično, ali ne uvijek, nestaje tijekom spavanja. Povrem
 
eniphotic stimulacija može izazvati epileptički hirova.Polygraphic snimke pokazuju povezanost myoclonias i Spike-val ili polyspike-wave otpusti.Myoclonias su kratki (1 do 3 sekunde) i obično izoliran. Myoclonias mogu slijedi kratkaatonia. Ponekad, nakon napada, postoji dobrovoljni pokret koji je vidljiv kao norm
 
alne mišićnekontrakcije.Interiktalnog EEG je normalno za dob djeteta. Spontani šiljak-val ispusta su rijetke, a nekispori val može se naći više od središnjih podrja. Povremeni photic stimulacije ne izaziva šiljak-val bez istodobne myoclonia. Nap spavanja snim
 
ke su pokazale normalan organizaciju sna;generalizirana šiljak-val ispuštanja mogu pojaviti tijekomR
 
EMspavanje.Niti jedna druga vrsta napadaja u djece s idiopatskom
 
epileptički epilepsije u ranom
 
djetinjstvuu ranim fazama, čak i ako se ne liječi, posebice, nema odsutnosti ili tonik napadaja. Takav jebio slučaj do 9 godina u 2 bolesnika(Dravet i ured 2005; Gentile et al 2010). Klinički pregled je normalno. Interiktalnogmioklonusje opisao samo Giovanardi R
 
ossi i njegovi kolege u 6bolesnika(Giovanardi R
 
ossi i sur 1997). Mnogi pacijenti nisu istraženi, ali kadCTiMR
 
Iwereperform
 
ed, they were normal. Themyoclonic seizuresare usually well controlled by a valproatemonotherapy.The outcome seems to depend on an early diagnosis and treatment. If lef 
 
t untreated, thepatient continues to experience myoclonic attacks, and this may lead to impaired psychomotordevelopment and behavioral disturbances. Myoclonias are usually well controlled by valproatealone, but relatively high doses must be used. In about 20% of 
 
patients, one bitherapy hasbeen necessary (valproate and one benzodiazepine, rarely ethosuximide, phenobarbital,lamotrigine). The majority of 
 
children then develop regularly, according to normal milestones.However, a small proportion (about 20%) will have developm
 
ental or behavioral problems.The subgroup of 
 
idiopathic myoclonic epilepsy in inf 
 
ancy withref 
 
lex seizuresreported in theliterature is considered, and the same main characteristics emerge. Of 
 
tentimes, reflex seizureswere associated with spontaneous seizures in the same patient. The EEGs were not different.Seizures could disappear without treatment, but not always, and seizure control was not easilyobtained in all patients(Zullini et al 1996). These patients seem
 
ed to have normal
Print to PDF without this message by purchasing novaPDF (http://www.novapdf.com/)
 
development, but were often followed f 
 
or only a short period of 
 
time before school age, whichdid not allow for a good assessm
 
ent of cognitive developm
 
ent. Auvin and colleagues did notfind signif 
 
icant differences in terms of clinical and EEG parameters in the reflex group comparedto the non-ref 
 
lex group(Auvin et al 2006). However, cognitive outcome appeared better in theformer group: all 8 patients evaluated had normal performance, as opposed to only 9 am
 
ongthe 12 evaluated in the latter group.At present, as the genetic substratum of this epilepsy remains unknown, it is impossible todetermine if 
 
the ref 
 
lex f 
 
orm is a variant of 
 
idiopathic myoclonic epilepsy in infancy or anindependent stimulo-sensible syndrome(Caraballo et al 2003).
Clinical vignette
The patie
 
nt was the second of 2 brothers. The oldest brother was in good health. There werechildhoodfebrile convulsionsin one of the father's cousins and a hormonal deficit in the firstmonths of pregnancy. The birth delivery was normal and there was normal psychom
 
otordevelopment. The f 
 
irst myoclonic attacks were between 8 and 9 months of 
 
age, with a slightforward movem
 
ent of 
 
the head, upward movement of 
 
the upper limbs, and rolling balls of theeyes several times a day. At 14 months the firstEEGshowed generalized spike wave andpolyspike wave. Low doses of 
 
valproate and clonazepam
 
did not completely control seizuresthat were sometim
 
es provoked by sudden contacts or noises. First ref 
 
erred to our center at 16months, several spontaneous or ref 
 
lex myoclonic jerks associated with brief generalized spikewave in polygraphic video EEG were recorded. There was no photosensitivity. Clinicalexamination was normal. No neuroimaging was perf 
 
ormed. The development quotient measuredby the Brunet-Lézine scale was 96, and the child attended normal kindergarten. Plasma level of valproate was low (62 mg/mL). Clonazepam was not well tolerated. Valproate monotherapywith 30 m
 
g/k per day was established, and seizures disappeared totally.In following years, the patient was regularly seen in our center. He continued to be seizurefree and to develop normally.At 5 years 6 months, valproate was stopped. The last EEG control showed a norm
 
al awaketrace and the persistence of rare generalized spike wave during drowsiness and slow sleep. PSIand videotape watching did not provoke discharges. At 6 years 3 months, he attended his f 
 
irstelementary class without difficulties. Af 
 
ter this age he was lost to follow-up.
Etiology
Neuro
 
imaging, when it is perf 
 
orm
 
ed, never displays a structural abnormality.This epilepsy belongs to the group of idiopathic generalized epilepsies(Commission 1989). Itseems to be the equivalent of 
 
 juvenile myoclonic epilepsyin inf 
 
ancy, but the 2 syndromes havebeen observed successively in only 2 patients(Auvin et al 2006).However, in the literature, some patients were reported with an initial clinical picture of idiopathic myoclonicepilepsyin infancy and a dif 
 
 
erent subsequent course with other seizuretypes and motor and cognitive impairment. This led to the diagnosis of glucose transporter-1def 
 
iciency (GLUT1DS) and was confirmed by genetic analysis, which revealed a missensemutation of the
SLC2A1
gene (Oguni et al 2005;(Gaspard et al 2011). This etiology should beinvestigated only in cases with an atypical severe outcome.
Pathogenesis and pathophysiology
There
 
is no constant biological background; diabetes andDown syndromeare probablyfortuitous associations.Genetics is unknown. Cases are rare and no family cases have been described, with theexception of 
 
a pair of 
 
2 monozygotic twins(Doose 2003).Genetic relationships with other types of idiopathic generalized epilepsies are not wellestablished, but several syndromes could be related.Juvenile myoclonic epilepsyhas beenobserved in 2 cases at adolescence, after the end of 
 
the syndrome(Auvin et al 2006)and themother of 
 
another case was affected by juvenile myoclonicepilepsy (Darra et al 2006). However, Delgado-Escueta and colleagues did not
 
ind cases of juvenile myoclonic epilepsy intheir study of 24 af 
 
 
ected family members of 
 
early childhood m
 
yoclonic epilepsy patients(Delgado-Escueta et al 1990). Instead, they found that 76% of patients had other types of idiopathic generalized epilepsies. Myoclonic-astatic epilepsy has been observed in 3 f 
 
amilies. In2, it af 
 
 
ected 1 brother of the proband(Arzimanoglou et al 1996; Darra et al 2006). In the third, it affected the mother and 1 brother(Doose 1992). Moreover, Auvin and colleagues
Print to PDF without this message by purchasing novaPDF (http://www.novapdf.com/)

You're Reading a Free Preview

Download
scribd
/*********** DO NOT ALTER ANYTHING BELOW THIS LINE ! ************/ var s_code=s.t();if(s_code)document.write(s_code)//-->