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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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