半側(cè)巨腦癥：臨床意義和外科治療（Hemimegalencephaly: clinical implications and surgical treatment）

　　英文簡(jiǎn)介：

　　Introduction Hemimegalencephaly (HME) is a quite rare malformation of the cortical development arising from an abnormal proliferation of anomalous neuronal and glial cells that generally leads to the hypertrophy of the whole affected cerebral hemisphere. The pathogenesis of such a complex malformation is still unknown even though several hypotheses are reported in literature.

　　Background HME can occur alone or associated with neurocutaneous disorders, such as neurofibromatosis, epidermal nevus syndrome, Ito’s hypomelanosis, and Klippel-Trenonay -Weber syndrome. The clinical picture is usually dominated by a severe and drug-resistant epilepsy. Other common findings are represented by macrocrania, mean/severe mental retardation, unilateral motor deficit, and hemianopia. The EEG shows different abnormal patterns, mainly characterized by suppression burst and/or hemihypsarrhythmia. Although neuroimaging and histologic investigations often show typical findings (enlarged hemisphere, malformed ventricular system, alteration of the normal gyration), the differential diagnosis with other disorders of the neuronal and glial proliferation may be difficult to obtain in some cases. Hemispherectomy/hemispherotomy is the most effective treatment to control seizure, and it also seems to provide good results on the psychomotor development when performed early, as demonstrated by the literature review and by the personal series reported here (20 children). The surgical therapy of HME, however, is still burdened by a quite high complication rate and mortality risk.

　　中文簡(jiǎn)介：

　　半側(cè)巨腦癥(Hemimegalencephaly, HME)是一種少見(jiàn)的皮層發(fā)育畸形，由異常的神經(jīng)元和膠質(zhì)細(xì)胞異常增生引起，通常導(dǎo)致整個(gè)受累大腦半球肥大。這種復(fù)雜畸形的發(fā)病機(jī)制至今仍不清楚，盡管文獻(xiàn)中已報(bào)道了幾種假說(shuō)。

　　背景:HME可單獨(dú)發(fā)生或與神經(jīng)皮膚疾病相關(guān)，如神經(jīng)纖維瘤病、表皮痣綜合征、伊藤低鎂癥和Klippel-Trenonay -Weber綜合征。臨床表現(xiàn)通常以嚴(yán)重的和耐藥的癲癇為主。其他常見(jiàn)的表現(xiàn)為巨眼畸形、中/重度智力遲鈍、單側(cè)運(yùn)動(dòng)障礙和偏盲。腦電圖表現(xiàn)出不同的異常模式，主要表現(xiàn)為控制性猝發(fā)和/或半催眠性心律失常。雖然神經(jīng)影像學(xué)和組織學(xué)檢查常顯示典型的表現(xiàn)(腦半球增大、腦室系統(tǒng)畸形、正常旋轉(zhuǎn)改變)，但在某些情況下，與其他神經(jīng)和膠質(zhì)細(xì)胞增生疾病的鑒別診斷可能很難獲得。大腦半球切除術(shù)/大腦半球切開(kāi)術(shù)是控制癲癇發(fā)作較合適的治療方法，而且在早期實(shí)施時(shí)，似乎對(duì)精神運(yùn)動(dòng)發(fā)育也有良好的效果，正如文獻(xiàn)綜述和這里報(bào)道的個(gè)人系列(20名兒童)所證明的那樣。然而，HME的手術(shù)治療仍存在相當(dāng)高的并發(fā)癥發(fā)生率和死亡風(fēng)險(xiǎn)。

　　半側(cè)巨腦癥是一種少見(jiàn)的先天性發(fā)育畸形，其特征是大腦半球或部分腦葉的異常發(fā)育和發(fā)育不良。“半側(cè)巨腦癥”(hemimegalencephaly, HME)一詞于1835年由西姆斯(Sims)提出，用于描述女性患者左大腦半球約占整個(gè)顱內(nèi)體積的三分之二。雖然少見(jiàn),但HME是一個(gè)有爭(zhēng)議的話題在接受調(diào)查,神經(jīng)病理學(xué)家,兒科醫(yī)師,兒科神經(jīng)學(xué)家關(guān)于臨床特點(diǎn),自然歷史,和這樣一個(gè)復(fù)雜的發(fā)病機(jī)制改變大腦的發(fā)展,這是令人驚訝的是限于一個(gè)大腦半球,涉及神經(jīng)遷移、分化和增殖在同一時(shí)間。兒科神經(jīng)外科醫(yī)生認(rèn)為這種情況是一個(gè)挑戰(zhàn)，因?yàn)樗枰獙?duì)大多數(shù)兒童進(jìn)行早期診斷和早期手術(shù)指征，以防止由近乎持續(xù)的、過(guò)早的演變?yōu)闉?zāi)難性的癲癇所造成的損害。手術(shù)處理可能比較困難，需要神經(jīng)外科醫(yī)生、小兒麻醉師和重癥監(jiān)護(hù)專家的共同努力。

圖示：一名2歲男童因右半無(wú)腦畸形而接受手術(shù)。術(shù)前(a、b)及術(shù)后(c、d)軸位(t1加權(quán))及冠狀位(t2加權(quán))核磁共振檢查。注意解剖性半腦切除術(shù)后顱內(nèi)較大殘留空洞，無(wú)繼發(fā)性腦積水

　　本研究主要人員之一，INC國(guó)際神經(jīng)外科醫(yī)生集團(tuán)旗下組織國(guó)際神經(jīng)外科顧問(wèn)團(tuán)(WANG)成員Concezio Di Rocco教授在兒科神經(jīng)外科及科領(lǐng)域的臨床治療經(jīng)驗(yàn)頗為豐富，是國(guó)際公認(rèn)的兒科神經(jīng)外科專家。同時(shí)也是國(guó)際兒童神經(jīng)外科學(xué)會(huì)主席(ISPN)(1991-1994年)、國(guó)際神經(jīng)外科聯(lián)合會(huì)教育委員共同主席(2013-2017年)、國(guó)際神經(jīng)外科聯(lián)合會(huì)兒童神經(jīng)外科委員會(huì)主席(2001-2009年)。自2014年5月起，就擔(dān)任了德國(guó)漢諾威國(guó)際神經(jīng)科學(xué)研究所(INI)的兒科神經(jīng)外科主任。Concezio Di Rocco教授尤為擅長(zhǎng)腦和脊柱畸形(半椎體畸形）、小兒神經(jīng)纖維瘤、癲癇、腦積水、蛛網(wǎng)膜囊腫、顱縫早閉、腦和脊髓腫瘤、皮質(zhì)發(fā)育不良，脊髓脊膜膨出，脊髓內(nèi)脂肪瘤，Arnold-Chiari畸形)等難治病癥方面的治療，進(jìn)行過(guò)12,000多次神經(jīng)外科手術(shù)。

• 文章標(biāo)題：半側(cè)巨腦癥：臨床意義和外科治療
• 更新時(shí)間：2019-10-29 17:33:13