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1、#312#中华神经科杂志2006年5月第39卷第5期ChinJNeuro,lMay2006,Vol39,No15#论著#神经元腊样质脂褐素沉积病的临床和影像学特点姚生毕鸿雁吕鹤张巍王朝霞肖江喜袁云【摘要】目的探讨神经元腊样质脂褐素沉积病(NCL)的临床表现规律和影像学特点。方法回顾分析我院经病理检查确诊的11例NCL患者的临床和影像学资料,对比分析国内报道的15例同类型NCL的临床和影像学资料。结果26例患者中青少年型NCL12例,占46%,3~15岁发病,首发症状多为智力减退或癫发作。晚期婴儿型NCL8例,占31%,1~7岁发病,首发症状表现为癫发作。婴儿型
2、NCL4例,占15%,出生后4~9个月发病,首发症状表现为智能和运动发育停滞。成年型NCL2例,占8%,26及32岁发病,以痴呆和精神异常为首发症状。磁共振成像(MRI)特点主要表现为弥漫性脑萎缩,部分患者伴随白质损害,婴儿型和晚期婴儿型NCL出现丘脑改变。结论NCL患者的发病类型以青少年型为主,不同类型的NCL临床症状及出现顺序各异,影像学改变类似,婴儿型及晚发婴儿型伴丘脑损害。【关键词】神经元腊样质脂褐质沉积病;神经变性疾病;磁共振成像;萎缩Theclinicalandneuroimagingfeaturesofneuronalceroidlipofusc
3、inosisYAOSheng,BIHong-yan,LBHe,ZHANGWei,WANGZhao-xia,XIAOJiang-xi,YUANYun1DepartmentofNeurology,theFirstHospital,PekingUniversity,Beijing100034,ChinaCorrespondingauther:YUANYun,Email:yuanyun2002@sohu1com【Abstract】ObjectiveTostudytheclinicalandneuroimagingfeaturesofneuronalceroidlipo
4、fuscinosis(NCL)inChina1MethodsClinicalandradiologicaldataof11casesofNCLconfirmedbypathologyinourinstitutionwereretrospectivelyanalyzedandcomparedwiththoseof15casesofNCLreportedinChineseliterature1ResultsTwelvecasesof26patientswerejuvenileNCLs,wasaccountingfor46%ofalltheNCLcases1Most
5、oftheonsetbeganat3)15yearsold,withthesymptomsofmentalretardationandseizures1EightlateinfantileNCLsaccountedfor31%oftheNCLs,whobeganwithseizuresatagesof1)7years1FourinfantileNCLsaccountedfor15%ofallcases,whopresentedwithprogressivemotorandmentalretardationbeginningfrom4)9monthsold1Tw
6、oadultNCLs,accountingfor8%,showeddementiaandpsychiatricsymptomsbeginningattheageof26and32years1MRIwascharacterizedbydiffusebrainatrophy1Somecasesshowedwhitematterimpairment1ThalamuswasinvolvedininfantileNCLandlateinfantileNCL1ConclusionsInthisstudy,themostcommonformofNCLisjuvenileNC
7、L1Theclinicalsymptomsandcourseofthediseasedifferbetweenthesubgroups1Theradiologicalmanifestationsaresimilar,exceptthatthalamusisinvolvedininfantileNCLandlateinfantileNCL1【Keywords】Neuronalceroid-lipofuscinosis;Neurodegenerativediseases;Magneticresonanceimaging;Atrophy神经元腊样质脂褐素沉积病(ne
8、uronalceroid或CLN1)、
