Figura 1: Prevalenza e incidenza
ictus..
Figura 2 : paziente femmina 63
anni, CADASIL.Immagine assiale FLAIR che mostra iperintensità a livello della sostanza bianca sottocorticale temporo-polare dei due lati.
64
Figure 3: paziente maschio, 28anni,
CADASIL. Immagini assiali T2(A) e FLAIR(B) che mostrano due aree iperintense a livello del terzo posteriore di entrambi i nuclei lenticolari alcune puntiformi
iperintensità sottocorticale temporale sinistra.
Figura 4: Paziente femmina, 56
anni, CADASIL. Immagini assiale FLAIR (A) e T2 (B) che mostrano una sfumata accentuazione di segnale della sostanza bianca periventricolare,multipli esiti gliotici post-‐ischemici a carico di entrambe le corone radiate e in sede sottocorticale frontale al vertice.Ampio esito gliotico malacico con verosimile minimo screzio emosiderinico apprezzabile in sede nucleo-‐capsulo-‐radiata a destra.
66
Figure 6:Paziente maschio,64 anni,
Pseudoxantoma Elasticum. Immagini assiali FLAIR (A), DWI (B) mostrano puntiformi focalità nel braccio posteriore della capsula interna, in sede paratrigonale e paracornuale frontale specie a sinistra.
Angio RM (C):segmenti stenotici dell’arteria cerebrale media sinistra alternati a segmenti ectasici.
Figure 5:Paziente maschio,64 anni,
Pseudoxantoma Elasticum.
Immagine: discromiche cutanee a buccia di arancia
Figure 7: paziente maschio, 46
anni , Malattia di Fabry.
Immagini assiali FLAIR (A e B) e T1 (C) che mostrano esiti gliotici peri e sovratrigonali (A), cerebellare destro (B), e iperintensità di segnale nelle immagini T1 a carico del polo posteriore di entrambi i pulvinar (C).
68
Figure 8: paziente maschio, 46
anni , Malattia di Fabry.
Immagine angiomi multipli con disposizione a costume da bagno
Figure 9: paziente maschio, 46
anni , Malattia di Fabry. Immagine cardio-Rm :
ispessimento concentrico delle pareti ventricolari e minima area di fibrosi della giunzione infero- basale.
Figure 10:Paziente femmina,22.
MELAS.
Immagini assiali FLAIR
(A) non apprezzabili lesioni.
(B) ischemia tempero-‐occipito-‐ parietale sinistra in paziente sottoposta a craniectomia decompressiva.
(C) lesioni ischemiche cortico sottocorticali in sede occipito-‐ temporo-‐parietale bilaterali, frontali mesiali bilaterali
A
B
70
Figure 11 B: Paziente femmina,
22 anni, MELAS
Biopsia cerebreale: Frammenti di tessuto cerebrale corticale e sottocorticale caratterizzati da infiltrati emorragici recenti e multipli focolai ischemici subacuti, iperplasia endoteliale e presenza di “neuroni rossi”. Reperti di spongiosi con gliosi reattiva, in sede corticale e nella sostanza bianca. Assenza di reperti indicativi di vasculite.
Figure 11 A:Paziente femmina,22
anni, MELAS
Biopsia muscolare: minimi reperti miopatici senza chiare fibre ragged red alla colorazione tricromica (c); assenza di fibre COX deficienti alla colorazione per citocromo
ossidasi.
Figure 12:Paziente maschio,45 anni, MELAS.
Immagini cardio-RM: rilievo di un quadro di ipertrofia ventricolare sinistra con segni di fibrosi ripartiva
Figure 13:Paziente maschio,45 anni,
MELAS. Immagini coronali e sagittali FLAIR (A) che mostrano iperintensità dei fasci piramidali
72
Figura 14: immagini assiali FLAIR
(A) e T2 (B) che mostrano esito ischemico cortico-‐sottocorticle occipito mesiale destra
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