中枢结节硬化专家讲座

CentralNervousSystem

南京医科大学一附院放射科洪汛宁hongxunning@1中枢结节硬化第1页TuberousSclerosisTuberoussclerosisisageneticdisorderaffectingcellulardifferentiationandproliferation,whichresultsinhamartomaformationinmanyorgans(eg,skin,brain,eye,kidney,heart).2中枢结节硬化第2页PathophysiologyTheinheritanceisautosomaldominant,whileupto50-70%ofcaseshavebeenattributedtonewmutations.Twogeneticlocihavebeenidentifiedsofar.Thefirstgenemapstochromosome9,specifically9q34(TSC1);thesecondgenemapstochromosome16,specifically16p13(TSC2).3中枢结节硬化第3页FrequencyIntheUS:ThefrequencyintheUnitedStatesis1casein5,800-30,000persons.Internationally:InternationalfrequencyisthesameasUSfrequency.4中枢结节硬化第4页Race:Noracialpredilectionhasbeennoted.Sex:Nosexpredilectionhasbeennoted.Age:Mostpatientsarediagnosedbetweenages2and6years.5中枢结节硬化第5页Physical

MajorfeaturesFacialangiofibromasorforeheadplaqueNontraumaticungualorperiungualfibromasHypomelanoticmacules(>3)Shagreenpatch(connectivetissuenevus)MultipleretinalnodularhamartomasCorticaltuberSubependymalnoduleSubependymalgiantcellastrocytomaCardiacrhabdomyoma,singleormultipleLymphangiomyomatosisRenalangiomyolipoma6中枢结节硬化第6页Physical

MinorfeaturesMultiplerandomlydistributedpitsindentalenamelHamartomatousrectalpolypsBonecystsCerebralwhitematterradialmigrationlinesGingivalfibromasNonrenalhamartomaRetinalachromicpatchConfettiskinlesionsMultiplerenalcysts7中枢结节硬化第7页临床表现结节性硬化临床表现主要为皮脂腺瘤、智力迟钝和癫痫三联症，还可见全身各器官并发肿瘤。8中枢结节硬化第8页DiagnosisDefinitetuberoussclerosiscomplexisdiagnosedbythepresenceofeither2majorfeaturesor1majorfeatureplus2minorfeatures.Probabletuberoussclerosiscomplexisindicatedby1majorfeatureplus1minorfeature.Possibletuberoussclerosiscomplexisindicatedbyeither1majorfeatureor2ormoreminorfeatures.9中枢结节硬化第9页ImagingStudies

Evaluationofnewlydiagnosedpatientsshouldincludeapersonalandfamilyhistoryandaclinicalexamination,includingfunduscopy眼底镜检验,cranialimaging(eg,MRI,nonenhancedCTscanning),renalultrasonography,andechocardiographyininfants.10中枢结节硬化第10页CranialCTscanningismorelikelytodetectlesionsoftuberoussclerosisasascreeningtool;MRIoftendetectslesionsthatarenotasspecifictoTSC.MRIisthefirstchoice;however,ifthescanresultsarenegativeandthediagnosisisuncertain,thenCTscanningmaybeperformed.11中枢结节硬化第11页CToftheheadCT平扫显示脑皮层结节大小不等，多为两侧对称分布低密度，增强扫描不强化，而室管膜下结节易发生钙化。室管膜下巨细胞型星形细胞瘤普通为等密度，内部可见低密度坏死囊变部分、及高密度钙化灶，增强后呈中等度强化。

12中枢结节硬化第12页MRI皮层结节在T1WI多呈等信号，少数为低信号，T2WI为高信号，普通不强化。病变区脑皮层扩大，脑回增宽。室管膜下结节以T1WI显示很好，其钙化部分呈低信号，非钙化部分呈中等信号；T2WI除钙化部分为低信号外，均呈高信号，结节非钙化部分可强化。MRI能显示脑白质内异位细胞簇，表现为T2WI脑白质内有异常高信号，或脑白质有特征性、放射状排列高信号带。室管膜下巨细胞型星形细胞瘤除钙化部分为低信号外，在T1WI上呈等信号或低信号，T2WI呈显著高信号，同时能显示肿瘤周围水肿。13中枢结节硬化第13页18月龄，男，站立不稳，搀扶下行走交叉步态

CT示室管膜多发点状钙化

14中枢结节硬化第14页结节性硬化（tuberoussclerosis）15中枢结节硬化第15页结节性硬化（tuberoussclerosis）16中枢结节硬化第16页17中枢结节硬化第17页18中枢结节硬化第18页19中枢结节硬化第19页20中枢结节硬化第20页胼胝体发育不良21中枢结节硬化第21页agenesisofthecorpuscallosum

22中枢结节硬化第22页agenesisofthecorpuscallosum

23中枢结节硬化第23页24孕30周，双侧侧脑室后角扩大，胼胝体缺如24中枢结节硬化第24页25孕30周，双侧侧脑室后角扩大，胼胝体缺如25中枢结节硬化第25页脑裂畸形Schizencephaly