[MIM 307 000]

(HSAS, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius, L1 syndrome)

Prevalence: 1 to 9/100,000. X-linked recessive transmission of a mutation of the  L1CAM gene on Xq28.

Association of:

-        congenital stenosis of the aqueduct of Sylvius (in utero hydrocephalus): severe hydrocephalus

-        spasticity

-        severe intellectual deficit

-        thumbs in adduction

Some cases are associated with Hirschsprung's disease or chronic intestinal pseudoobstruction (CIPO) (see these terms) as a result of a disorder of differentiation of Carvajal cells.

It is part of the spectrum of clinical presentations of the L1 syndrome (see this term) with CRASH and MASA syndromes, X-linked complete agenesis of corpus callosum and X-linked hereditary complex spastic paraplegia type 1.

Anesthetic implications: 

hydrocephalus in the neonate; spasticity, polyhandicapped child

References : 

Updated: October 2016