中樞結(jié)節(jié)硬化專家講座

CentralNervousSystem

南京醫(yī)科大學(xué)一附院放射科洪汛寧hongxunning@1中樞結(jié)節(jié)硬化第1頁TuberousSclerosisTuberoussclerosisisageneticdisorderaffectingcellulardifferentiationandproliferation,whichresultsinhamartomaformationinmanyorgans(eg,skin,brain,eye,kidney,heart).2中樞結(jié)節(jié)硬化第2頁P(yáng)athophysiologyTheinheritanceisautosomaldominant,whileupto50-70%ofcaseshavebeenattributedtonewmutations.Twogeneticlocihavebeenidentifiedsofar.Thefirstgenemapstochromosome9,specifically9q34(TSC1);thesecondgenemapstochromosome16,specifically16p13(TSC2).3中樞結(jié)節(jié)硬化第3頁FrequencyIntheUS:ThefrequencyintheUnitedStatesis1casein5,800-30,000persons.Internationally:InternationalfrequencyisthesameasUSfrequency.4中樞結(jié)節(jié)硬化第4頁Race:Noracialpredilectionhasbeennoted.Sex:Nosexpredilectionhasbeennoted.Age:Mostpatientsarediagnosedbetweenages2and6years.5中樞結(jié)節(jié)硬化第5頁P(yáng)hysical

MajorfeaturesFacialangiofibromasorforeheadplaqueNontraumaticungualorperiungualfibromasHypomelanoticmacules(>3)Shagreenpatch(connectivetissuenevus)MultipleretinalnodularhamartomasCorticaltuberSubependymalnoduleSubependymalgiantcellastrocytomaCardiacrhabdomyoma,singleormultipleLymphangiomyomatosisRenalangiomyolipoma6中樞結(jié)節(jié)硬化第6頁P(yáng)hysical

MinorfeaturesMultiplerandomlydistributedpitsindentalenamelHamartomatousrectalpolypsBonecystsCerebralwhitematterradialmigrationlinesGingivalfibromasNonrenalhamartomaRetinalachromicpatchConfettiskinlesionsMultiplerenalcysts7中樞結(jié)節(jié)硬化第7頁臨床表現(xiàn)結(jié)節(jié)性硬化臨床表現(xiàn)主要為皮脂腺瘤、智力遲鈍和癲癇三聯(lián)癥，還可見全身各器官并發(fā)腫瘤。8中樞結(jié)節(jié)硬化第8頁DiagnosisDefinitetuberoussclerosiscomplexisdiagnosedbythepresenceofeither2majorfeaturesor1majorfeatureplus2minorfeatures.Probabletuberoussclerosiscomplexisindicatedby1majorfeatureplus1minorfeature.Possibletuberoussclerosiscomplexisindicatedbyeither1majorfeatureor2ormoreminorfeatures.9中樞結(jié)節(jié)硬化第9頁ImagingStudies

Evaluationofnewlydiagnosedpatientsshouldincludeapersonalandfamilyhistoryandaclinicalexamination,includingfunduscopy眼底鏡檢驗(yàn),cranialimaging(eg,MRI,nonenhancedCTscanning),renalultrasonography,andechocardiographyininfants.10中樞結(jié)節(jié)硬化第10頁CranialCTscanningismorelikelytodetectlesionsoftuberoussclerosisasascreeningtool;MRIoftendetectslesionsthatarenotasspecifictoTSC.MRIisthefirstchoice;however,ifthescanresultsarenegativeandthediagnosisisuncertain,thenCTscanningmaybeperformed.11中樞結(jié)節(jié)硬化第11頁CToftheheadCT平掃顯示腦皮層結(jié)節(jié)大小不等，多為兩側(cè)對稱分布低密度，增強(qiáng)掃描不強(qiáng)化，而室管膜下結(jié)節(jié)易發(fā)生鈣化。室管膜下巨細(xì)胞型星形細(xì)胞瘤普通為等密度，內(nèi)部可見低密度壞死囊變部分、及高密度鈣化灶，增強(qiáng)后呈中等度強(qiáng)化。

12中樞結(jié)節(jié)硬化第12頁MRI皮層結(jié)節(jié)在T1WI多呈等信號，少數(shù)為低信號，T2WI為高信號，普通不強(qiáng)化。病變區(qū)腦皮層擴(kuò)大，腦回增寬。室管膜下結(jié)節(jié)以T1WI顯示很好，其鈣化部分呈低信號，非鈣化部分呈中等信號；T2WI除鈣化部分為低信號外，均呈高信號，結(jié)節(jié)非鈣化部分可強(qiáng)化。MRI能顯示腦白質(zhì)內(nèi)異位細(xì)胞簇，表現(xiàn)為T2WI腦白質(zhì)內(nèi)有異常高信號，或腦白質(zhì)有特征性、放射狀排列高信號帶。室管膜下巨細(xì)胞型星形細(xì)胞瘤除鈣化部分為低信號外，在T1WI上呈等信號或低信號，T2WI呈顯著高信號，同時能顯示腫瘤周圍水腫。13中樞結(jié)節(jié)硬化第13頁18月齡，男，站立不穩(wěn)，攙扶下行走交叉步態(tài)

CT示室管膜多發(fā)點(diǎn)狀鈣化

14中樞結(jié)節(jié)硬化第14頁結(jié)節(jié)性硬化（tuberoussclerosis）15中樞結(jié)節(jié)硬化第15頁結(jié)節(jié)性硬化（tuberoussclerosis）16中樞結(jié)節(jié)硬化第16頁17中樞結(jié)節(jié)硬化第17頁18中樞結(jié)節(jié)硬化第18頁19中樞結(jié)節(jié)硬化第19頁20中樞結(jié)節(jié)硬化第20頁胼胝體發(fā)育不良21中樞結(jié)節(jié)硬化第21頁agenesisofthecorpuscallosum

22中樞結(jié)節(jié)硬化第22頁agenesisofthecorpuscallosum

23中樞結(jié)節(jié)硬化第23頁24孕30周，雙側(cè)側(cè)腦室后角擴(kuò)大，胼胝體缺如24中樞結(jié)節(jié)硬化第24頁25孕30周，雙側(cè)側(cè)腦室后角擴(kuò)大，胼胝體缺如25中樞結(jié)節(jié)硬化第25頁腦裂畸形Schizencephaly