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1、臨床神經(jīng)病學(xué)雜志2014年第27卷第2期·133··學(xué)術(shù)交流·肝豆?fàn)詈俗冃詮V泛大腦皮質(zhì)病變的MRI特征徐銀，韓永升，韓詠竹，薛本春，王偉，汪煒民，高偉明，饒嬈【摘要】目的探討肝豆?fàn)詈俗冃?HLD)廣泛大腦皮質(zhì)病變的MRI特征。方法回顧性分析3例臨床確診HLD患者的I臨床資料。結(jié)果本組3例HLD患者中男1例，女2例；年齡14—18歲，平均(16．0±1．6)歲；病程3個月～4年，平均(2．44-1．6)年。本組患者均以言語不清為首發(fā)癥狀，主要臨床表現(xiàn)為動作笨拙、行走不穩(wěn)等。頭顱MRI檢查示雙側(cè)皮質(zhì)及皮質(zhì)下白質(zhì)廣泛對稱性分布大片狀長T、長
2、r2異常信號，F(xiàn)lair相呈高信號，部分同時存在混雜信號，無強(qiáng)化效應(yīng)；其中2例還伴腦萎縮，腦室系統(tǒng)異常擴(kuò)大。結(jié)論HLD患者M(jìn)RI表現(xiàn)除典型基底節(jié)區(qū)病變外，還可以出現(xiàn)腦多部位受累。對于青少年期起病，臨床表現(xiàn)為錐體外系癥狀，頭顱MRI示廣泛大腦皮質(zhì)病變者，應(yīng)行銅代謝檢查以鑒別HLD的診斷?！娟P(guān)鍵詞】肝豆?fàn)詈俗冃?；大腦皮質(zhì)病變；MRI【中圖分類號】R742．4【文獻(xiàn)標(biāo)識碼】A【文章編號】1004．1648(2014)02-0133-03Mmfeaturesofhepatolenticulardegenerationwithwidesprea
3、dcorticallesionsXUn，HAN'I9一sheng，HANYong-zhu，eta1．DepartmentofNeurology，theAffiliatedHospitalofInstituteofNeurology，AnhuiUniversityofChineseMedicine，Hefei230061，ChinaAbstract：ObjectiveToobservetheMRIfeaturesofhepatolenticulardegeneration(HLD)withwidespresdconicallesions
4、．MethodsTheclinicaldataof3clinicaldiagnosedHLDpatientswereanalyzedretrospectively．ResultsTherewere1maleand2femalesinthisgroup．Theiragewasamong14to18yearsold，withtheaverageage(16．04-1．6)yearsold．Thecoursesofdiseasewerefrom3monthsto4years，withanaverage(2．4±1．6)years．Allth
5、epatientsofthisgroupwereonsetasslurredspeech，andtheirclinicalmanifestationsweremainlyclumsiness，unsteadygait，ete．BrainMRIshowedbilateralcorticalandsubeortiealwhitemattersymmetrywidelydistributedlargeflakelongTlandlongT2abnormalsignal，withFlairshowedhighsignal，somemixeds
6、ignalssimultaneouslyexist，noenhancementeffect；andincludingtwocasesofcerebralatrophyandabnormalexpansionoftheventrieularsystem．ConclusionsAdditiontothetypicalMRIfindingsofpatientswithlesionsinthebasalganglia，HLDcanalsooccurmanypartsofthebraininvolved．Foradolescentonsetwi
7、thclinicalmanifestationsofextrapyramidalsymptomsandhaswidespreadcorticallesionsincranialMRI，coppermetabolismandothertestsaresuggestedtobetakentoidentifythedignosisofHLD．Keywords：hepat0lenticulardegeneration；corticallesions；MRI肝豆?fàn)詈俗冃?HLD)屬常染色體隱性遺傳性疾1．6)歲；病程3個月～4年，平均(2．44
8、-1．6)年。病，系銅離子跨膜轉(zhuǎn)運(yùn)障礙致銅異常沉積于全身多器1．2臨床表現(xiàn)本組3例患者均以言語不清為首發(fā)官，如腦、肝臟、腎臟、角膜等，導(dǎo)致臨床表現(xiàn)復(fù)雜多癥狀，主要臨床表現(xiàn)為動作笨拙、行走不穩(wěn)等錐體外樣。頭顱影像學(xué)在基底節(jié)
