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1、HeatherBrandling-BennettGillianLieberman,MDNovember2001TuberousSclerosisARadiologicalPerspectiveHeatherBrandling-Bennett,HarvardMedicalSchool,YearIIIGillianLieberman,MDHeatherBrandling-BennettGillianLieberman,MDTuberousSclerosis•AlsoreferredtoasBourneville’
2、sdiseaseortuberoussclerosiscomplex(TSC)•Characterizedbyhamartomasinmultipleorgans•Wide-rangeofclinicalmanifestations,predominantlyaffectingtheskin,brain,kidney,heart,lung,eyeandbone•Autosomaldominantdisorder,althoughspontaneousmutationinuptotwo-thirdsofcase
3、s•Associatedwithabnormalitiesofchromosomes9&16•Prevalenceof1/10,000to1/100,000•Mostcommonofdominantlyinheritedgeneticdisorders2HeatherBrandling-BennettGillianLieberman,MDVogt’sClassicTriad(1908)•AdenomasebaceumFacialangiofibromas(facialangiofibromas)•Seizur
4、es•MentalRetardationHowever,only30%ofpatientswithtuberoussclerosishaveallthreeGuerreroetal.Circulation.1994;90(6):3113featuresofthetriad.3HeatherBrandling-BennettGillianLieberman,MDDermatologicalManifestations•Facialangiofibromas•Foreheadfibrousplaques•Peri
5、ungualfibromas•Shagreenpatch–Connectivetissuenevususuallyonthedorsalsurface•Hypomelanocyticmacules(Ashleafspot)–UseWood(UV)lightZelleretal.ArchDerm.1995;131(12):1465.Jalouetal.ArchPed&AdolMed.2001;155(1):89.4HeatherBrandling-BennettGillianLieberman,MDNeurol
6、ogicalManifestations•Subependymalglialnodules•Corticaltubers•Subependymalgiantcellastrocytomas•Seizures,mentalretardation,autism,ADHD5HeatherBrandling-BennettGillianLieberman,MDPatientA•48year-oldmalepatientattheBethIsraelDeaconessMedicalCenterwithtuberouss
7、clerosis•Suffersfromseizuresandseverementalretardation•Hashamartomasinthekidney,eyeandbrain6HeatherBrandling-BennettGillianLieberman,MDPatientA’sHeadCTCalcifiedsubependymalglialnodulesBIDMCBIDMC7HeatherBrandling-BennettGillianLieberman,MDHeadMRIMRIofa6year-
8、oldshowingagiantcellastrocytomaresultinginhydrocephaly•Superiorforidentifyingandenlargementofleftventriclecorticaltubers•Rarely,subependymalnodulestransformintogiantcellastrocytomas–Whenintheregionofth
