Snyder-Robinson syndrome
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(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