周淵峰 龔曉妍 周水珍 王 藝 柴毅明 郁莉斐 王新華 盧忠英

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·論著·

周淵峰1,3龔曉妍2,3周水珍1王 藝1柴毅明1郁莉斐1王新華1盧忠英2

1 方法

1.3 神經(jīng)電生理檢查 患兒入我院后常規(guī)行1～2次長(zhǎng)程VEEG(意大利EB PLUS-32導(dǎo)視頻腦電圖系統(tǒng))和同步肌電監(jiān)測(cè)，監(jiān)測(cè)時(shí)間>4 h，記錄至少1個(gè)完整的清醒-睡眠周期。

2 結(jié)果

2.2.2 發(fā)作癥狀學(xué)特點(diǎn) 經(jīng)VEEG監(jiān)測(cè)到成串痙攣9例，孤立痙攣8例，成串和孤立痙攣1例。痙攣表現(xiàn)為屈曲型13例，伸展型2例，混合型1例，輕微痙攣(無(wú)明顯軀干和肢體收縮)2例，其中合并強(qiáng)直痙攣3例；對(duì)稱痙攣16例，不對(duì)稱痙攣2例。同時(shí)還監(jiān)測(cè)到全面性發(fā)作7例，其中不典型失神3例，強(qiáng)直發(fā)作和肌陣攣發(fā)作各2例；部分性發(fā)作3例。

2.3 神經(jīng)電生理特點(diǎn)

2.3.1 發(fā)作間期神經(jīng)電生理特點(diǎn) 18例患兒中EEG為典型高度失律4例(圖1A)；無(wú)典型高度失律14例，其中多灶和廣泛性放電12例，一側(cè)多灶放電2例。10例異常放電在顳區(qū)或顳額區(qū)明顯(圖1B)，4例可見(jiàn)尖波或棘波節(jié)律(圖1C)。

圖1 晚發(fā)型癲性痙攣患兒發(fā)作間期和發(fā)作期EEG表現(xiàn)

Fig 1 Interictal and ictal EEG findings in late-onset epileptic spasm

Notes A: Interictal EEG showed hypsarrhythmia in a 2-year old male patient diagnosed as late-onset West syndrome; B: Interictal EEG showed multifocal discharges could be identified obviously in temporofrontal regions in an 8-year old male patient; C: Interictal EEG showed general spike wave rhythm in a 6-year old male patient diagnosed as Lennox-Gastaut syndrome; D: Ictal EEG showed clustered epileptic spasms in a 2-year old male patient diagnosed with late-onset West syndrome (L1R1, left and right deltoid muscle)

2.4 其他檢查 18例均行頭顱影像學(xué)檢查，結(jié)構(gòu)異常8例，其中腦多發(fā)軟化灶5例，腦萎縮3例。10例行血、尿串聯(lián)質(zhì)譜檢查，均未見(jiàn)明顯異常。1例行ARX基因目標(biāo)區(qū)域捕獲二代測(cè)序，結(jié)果為陰性。

2.6 電-臨床綜合征分類 根據(jù)腦電圖和臨床表現(xiàn)，8例符合電-臨床綜合征診斷，其中晚發(fā)型West綜合征4例，Lennox-Gastaut綜合征4例。

3 討論

[1]Goldstein J, Slomski J. Epileptic spasms: a variety of etiologies and associated syndromes. J Child Neurol, 2008, 23(4)：407-414

[2]Lux AL, Osborne JP. A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome:consensus statement of the West Delphi group. Epilepsia, 2004, 45(11):1416-1428

[3]Engel J Jr. Report of the ILAE classification core group. Epilepsia, 2006, 47(9): 1558-1568

[4]Shinnar S. The new ILAE classification. Epilepsia, 2010, 51(4): 715-717

[5]Keene DL. A systematic review of the use of the ketogenic diet in childhood Epilepsy. Pediatr Neurol, 2006, 35(1): 1-5

[6]中華醫(yī)學(xué)會(huì)兒科學(xué)分會(huì)神經(jīng)學(xué)組生酮飲食療法協(xié)作組. 長(zhǎng)期生酮飲食治療兒童難治性癲癇的前瞻性多中心研究. Chin J Pediatr(中華兒科雜志), 2013, 51(4):276-282

[7]Kwan P, Arzimanoglou A, Berg AT, et al. Definition of drug resistant epilepsy: Consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies. Epilepsia, 2010 ,51(6):1069-1077

[8]Zhou SZ(周水珍). 生酮飲食治療兒童難治性癲. Chin J Appl Clin Pediatr(中華實(shí)用兒科臨床雜志), 2013, 28(12): 883-885

[9]Suo C, Liao J, Lu X, et al. Efficacy and safety of the ketogenic diet in Chinese children. Seizure, 2013, 22(3): 174-178

[10]Eisermann MM, Ville D, Soufflet C, et al. Cryptogenic late-onset epileptic spasms: an overlooked syndrome of early childhood? Epilepsia，2006，47(6)：1035-1042

[11]Pavone P, Striano P, Falsaperla R, et al. Infantile spasms syndrome, West syndrome and related phenotypes: What we know in 2013. Brain Dev，2014，36(9):739-751

[12]Hancock E, Osborne JP, Edwards SW, et al. Treatment of infantile spasms. Cochrane Database Syst Rev, 2013, 6：CD 001770

[13]Oguni H , Funatsuka M, Sasaki K, et al. Effect of ACTH therapy for epileptic spasms without hypsarrhythmia. Epilepsia, 2005, 46(5)：709-715

[14]Hong AM, Turner Z, Hamdy RF, et al. Infantile spasms treated with the ketogenic diet: prospective single-center experience in 104 consecutive infants. Epilepsia, 2010, 51(8): 1403-1407

(本文編輯：張萍)

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Analysis of clinical features and the effect of ketogenic diet in children with late-onset epileptic spasms

ZHOUYuan-feng1,3,GONGXiao-yan2,3,ZHOUShui-zhen1,WANGYi1,CHAIYi-ming1,YULi-fei1,WANGXin-hua1,LUZhong-ying2

(1DepartmentofNeurology; 2DepartmentofClinicalNutrition,Children′sHospitalofFudanUniversity,Shanghai201102,China; 3Co-firstauthor)

ZHOU Shui-zhen，E-mail:szzhou@shmu.edu.cn

ObjectiveTo explore the clinical manifestations and electroencephalogram (EEG) features, causes and the effect of ketogenic diet (KD) for children diagnosed as pharmacoresistant late-onset epileptic spasms (LOES).MethodsThe clinical and EEG characteristics and the effect of antiepileptic drugs (AEDs) in 18 children with LOES were analyzed retrospectively. The effectiveness of one week, one month and three months after KD therapy for 8 children with pharmacoresistant LOES was evaluated. Results Eighteen children including 13 boys and 5 girls aged from 2 to 10 years with the median age of 6 years and 6 months were included. The onset age of epileptic seizures ranged from 1 year to 8 years with the median age of 3 years. The course of epilepsy ranged from 1 to 72 months with the median age of 9 months. The first seizure type was epileptic spasms in 4 cases and other seizure types in 14 children (77.8%). Interictal EEG showed classic hypsarrhythmia in 4 cases and no hypsarrhythmia in 14 cases (77.8%) of which multifocal discharges could be dentified obviously in temporofrontal regions. Developmental delay presented in all cases and 7 cases (44.4%) were symptomatic epilepsies, of which the commonest causes were central nervous system infection and perinatal insults, while 11 cases (61.1%) had unknown causes. Four patients fulfilled the entry criteria of late-onset West syndrome and 4 patients were diagnosed as Lennox-Gastaut syndrome. Eighteen patients were followed up for 3 to 24 months during AEDs treatment and the majority of the children were on valproate in monotherapy (n=2) or in combination with other AEDs (n=16) at the last follow up. Fourteen patients (77.8%) were diagnosed with pharmacoresistant epilepsy and 8 cases of them received KD therapy. Greater than 50% seizure reduction was achieved in 2 of 8 cases at one week, 3 of 8 cases at 1 month and 5 cases (62.5%) at 3 months after KD therapy. Seizure free was achieved in 1 of 8 case at one month and 3 cases (37.5%) at 3 months after KD therapy. Eight patients treated with KD was well tolerated and adverse effects were not found.ConclusionChildren with LOES not only occur in West syndrome, but also in other epileptic encephalopathy. Interictal EEG does not show classic hypsarrhythmia in most patients generally. Most LOES are refractory epilepsy and the KD is a safe and potentially effective method of treatment for children with LEOS.

Children; Epileptic spasms; Video electroencephalogram; Ketogenic diet

復(fù)旦大學(xué)附屬兒科醫(yī)院 1 神經(jīng)科，2 臨床營(yíng)養(yǎng)科 上海，201102；3 共同第一作者

周水珍，E-mail:szzhou@shmu.edu.cn

10.3969/j.issn.1673-5501.2015.04.010

2015-05-06

2015-07-25)