Idrocefalo X-Linked da Stenosi dell'Acquedotto di Silvio (HSAS) OMIM 307000

Idrocefalo X-Linked da Stenosi dell'Acquedotto di Silvio (HSAS) OMIM 307000


E' la più comune forma di idrocefalo ereditario, legato a mutazioni del gene L1CAM che mappa in Xq28. Caratteristicamente presenta idrocefalia e pollici addotti. L'idrocefalia è legata a stenosi dell'acquedotto di Silvio ed è quindi di tipo triventricolare con interessamento dei ventricoli laterali e del terzo ventricolo. Possono essere presenti altre anomalie del SNC come l'ipoplasia del corpo calloso. 
In realtà la forma caratterizzata da ipoplasia del corpo calloso, idrocefalia e pollici addotti, denominata Sindrome MASA o CRASH Sindrome o Sindrome L1 è considerata una variante allelica del HSAS ed interessa il sesso maschile. 
Sia la sindrome MASA che la paraplegia spastica ereditaria di tipo 1 e l'agenesia del corpo calloso complicata legata all'X sono manifestazioni cliniche di mutazioni nello stesso locus Xq28.
La diagnosi di queste anomalie può essere effettuata con lo studio molecolare del gene L1CAM.


Bibliografia

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