MIM 242 840]

(Vici-Sabette-Gambarara syndrome)

Rare. Autosomal recessive transmission or sporadic mutations of the EPG5 gene on 18q12.3-q21.1.

Clinical features:

-        agenesis of the corpus callosum, cerebral atrophy (cortex, brain stem, cerebellum); epilepsy; microcephaly

-        hypopigmentation of the skin and hair

-        bilateral cataracts

-        cleft lip palate, laryngomalacia

-        immune deficiency (low rate of CD34 lymphocytes ) leading to frequent respiratory infections

-        progressive cardiomyopathy

-        hypotonia due to a myopathy of unknown origin

-        sometimes sensorineural deafness.

In general, death in childhood after repeated infections.

One case of central sleep apnea with near-absence of sleep REM, which can be a sign of dysfunction of the central cholinergic system, has been reported.

Anesthetic implications:

risk of difficult intubation, epilepsy; risk of apnea at emergence of anesthesia; post-anesthesia respiratory monitoring

References : 

-        El-Kersh K, Jungbluth H, Gringras P, Senthivel E.
Severe central sleep apnea in Vici syndrome.
Pediatrics 2015; 136: e1391-4

Updated: September 2018