[MIM 309 583]

(X-linked fixed epileptogenic encephalopathy)

Prevalence: < 1/106. X-linked recessive transmission of a mutation of SMS gene which codes for spermine synthetase.
Association of:

-        hypotonia and poor muscle bulk

-        osteoporosis

-        asymmetry of the face, with arched or cleft palate (83%)

-        short stature (73%)

-        kyphoscoliosis

-        epilepsy that starts in childhood or adolescence

-        staggering gait

-        progressive moderate to severe intellectual deficit

-        sometimes: nephrocalcinosis

Anesthetic implications: 

risk of difficult mask ventilation or intubation; epilepsy; mental retardation; bone fragility

References :  

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Updated: March 2017