最新Kallmann综合征的MRI表现课件

Kallmann综合征的MRI表现Kallmann综合征的MRI表现1INTRODUCTION:Kallmannsyndromeisaninheriteddisordercharacterizedbyhypogonadotrophichypogonadismandanosmiaorhyposmia.KSisduetoabnormalmigrationofgonado-tropin-releasinghormone(GnRH)aswellasolfactoryneuronsfromolfactoryplacodetotheforebrainandhypothalamusduringfetallife.StructuralolfactorytractabnormalitiesarewellseenonMRIINTRODUCTION:Kallmannsyndrome2最新Kallmann综合征的MRI表现课件3最新Kallmann综合征的MRI表现课件4最新Kallmann综合征的MRI表现课件5最新Kallmann综合征的MRI表现课件6最新Kallmann综合征的MRI表现课件7最新Kallmann综合征的MRI表现课件8DISCUSSION:Kallmannsyndromeisaninheriteddisordercharacterizedbyhypogonadotrophichypogonadismandanosmiaorhyposmia.TheinheritancemaybeX-linked,AutosomalrecessiveorAutosomaldominantwithvariablepenetrance.Thereportedincidenceis1in10,000menand1in50,000women.DISCUSSION:Kallmannsyndromei9Kallmannsyndromeisananomalyofneuronalmigration.CellsthatdifferentiateintoGonadotrophinreleasinghormone(GnRH)secretingneuronsoriginatefromwithinembryonicolfactoryepitheliumandmigratealongfasciclesofvomeronasalandterminalisnervesintoforebrain.Kallmannsyndromeisananomal10ThismigrationofGnRHneuronsisarrestedinKSresultinginGnRHdeficiencyfollowedbydifferentdegreesofluteinizinghormone(LH)andfolliclestimulatinghormone(FSH)deficiencies.Abnormaldevelopmentofolfactoryplacodealsoresultsinimproperdevelopmentofolfactorybulbsandsulci.ThismigrationofGnRHneurons11diagnosisofKSinadultsisfairlystraightforward,dependingontheco-existenceofanosmiawithsubnormallevelsofgonadalsteroidsandgonadotrophins.Howeverthediagnosismaybedifficulttoestablishinpatientsofpre-pubertalagewhomayrequiregenetictestingandMRI.Insuchpatients,MRIenablesapresumptivediagnosisofKStobemadebydemonstratingcharacteristicabnormalitiesinolfactorysulciandtracttory.diagnosisofKSinadultsisf12IMAGINGMorphologicalabnormalitiesofolfactoryapparatusinKSarebestevaluatedwithMRI.HighresolutionscoronalfastspinechoT2Wimagesarethepreferredsequencesformorphologicevaluationoftheolfactorysystem.Olfactorybulbsareoptimallyvisualizedincoronalplanes.IMAGINGMorphologicalabnormali13itiseasiertoappreciateanatomical

anomalies

presentinKallmannsyndromebycomparingittoanormalpatient.Thenormalanatomyoftheregionconsistsoftheolfactorybulbslocatedintheolfactorygroovesoftheanteriorcranialfossa.Theinferiorsurfaceofthefrontallobesusuallyconsistsgyrusrectuseparatedfromthemedialorbitalgyrus(M)bytheolfactorysulcus(yellowarrow).itiseasiertoappreciate14oOlfactorybulb:bluearrowsgyrusrectus:Rthemedialorbitalgyrus:Molfactorysulcus:yellowarrowoOlfactorybulb:bluearrows15MRIFINDINGS:hypoplasiaoftheolfactorybulbswitholfactorytractspresent,aplasiaoftheolfactorybulbswitholfactorytractspresent.aplasiaofbotholfactorybulbsandolfactorytractsMRIFINDINGS:hypoplasiaofthe16ItwasalsodescribedmildtomoderatevolumelossintemporalandfrontallobesHypoplasiaofanteriorpituitarymaybesecondarytolimitedstimulationduetoabsenceofhypothalamicGnRHneurons.最新Kallmann综合征的MRI表现课件17CONCLUSION:Kallmann’ssyndromeisararegeneticdisorder.HighresolutionscoronalfastspinechoT2Wisthepreferredsequencesformorphologicevaluationoftheolfactorysystem.CONCLUSION:Kallmann’ssyndrome18最新Kallmann综合征的MRI表现课件19Kallmann综合征的MRI表现Kallmann综合征的MRI表现20INTRODUCTION:Kallmannsyndromeisaninheriteddisordercharacterizedbyhypogonadotrophichypogonadismandanosmiaorhyposmia.KSisduetoabnormalmigrationofgonado-tropin-releasinghormone(GnRH)aswellasolfactoryneuronsfromolfactoryplacodetotheforebrainandhypothalamusduringfetallife.StructuralolfactorytractabnormalitiesarewellseenonMRIINTRODUCTION:Kallmannsyndrome21最新Kallmann综合征的MRI表现课件22最新Kallmann综合征的MRI表现课件23最新Kallmann综合征的MRI表现课件24最新Kallmann综合征的MRI表现课件25最新Kallmann综合征的MRI表现课件26最新Kallmann综合征的MRI表现课件27DISCUSSION:Kallmannsyndromeisaninheriteddisordercharacterizedbyhypogonadotrophichypogonadismandanosmiaorhyposmia.TheinheritancemaybeX-linked,AutosomalrecessiveorAutosomaldominantwithvariablepenetrance.Thereportedincidenceis1in10,000menand1in50,000women.DISCUSSION:Kallmannsyndromei28Kallmannsyndromeisananomalyofneuronalmigration.CellsthatdifferentiateintoGonadotrophinreleasinghormone(GnRH)secretingneuronsoriginatefromwithinembryonicolfactoryepitheliumandmigratealongfasciclesofvomeronasalandterminalisnervesintoforebrain.Kallmannsyndromeisananomal29ThismigrationofGnRHneuronsisarrestedinKSresultinginGnRHdeficiencyfollowedbydifferentdegreesofluteinizinghormone(LH)andfolliclestimulatinghormone(FSH)deficiencies.Abnormaldevelopmentofolfactoryplacodealsoresultsinimproperdevelopmentofolfactorybulbsandsulci.ThismigrationofGnRHneurons30diagnosisofKSinadultsisfairlystraightforward,dependingontheco-existenceofanosmiawithsubnormallevelsofgonadalsteroidsandgonadotrophins.Howeverthediagnosismaybedifficulttoestablishinpatientsofpre-pubertalagewhomayrequiregenetictestingandMRI.Insuchpatients,MRIenablesapresumptivediagnosisofKStobemadebydemonstratingcharacteristicabnormalitiesinolfactorysulciandtracttory.diagnosisofKSinadultsisf31IMAGINGMorphologicalabnormalitiesofolfactoryapparatusinKSarebestevaluatedwithMRI.HighresolutionscoronalfastspinechoT2Wimagesarethepreferredsequencesformorphologicevaluationoftheolfactorysystem.Olfactorybulbsareoptimallyvisualizedincoronalplanes.IMAGINGMorphologicalabnormali32itiseasiertoappreciateanatomical

anomalies

presentinKallmannsyndromebycomparingittoanormalpatient.Thenormalanatomyoftheregionconsistsoftheolfactorybulbslocatedintheolfactorygroovesoftheanteriorcranialfossa.Theinferiorsurfaceofthefrontallobesusuallyconsistsgyrusrectuseparatedfromthemedialorbitalgyrus(M)bytheolfactorysulcus(yellowarrow).itiseasiertoappreciate33oOlfactorybulb:bluearrowsgyrusrectus:Rthemedialorbitalgyrus:Molfactorysulcus:yellowarrowoOlfa