[MIM 185 070]

Very rare. Autosomal dominant transmission of a gain of function mutation of the STIM1 gene (11p15.4) coding for  a  transmembranar protein of the CRAC channel that connects the cytoplasm to the endoplasmic reticulum and modulates the cytoplasmic concentration of Ca++ . Very similar to Stormorken syndrome (see this term): some consider it to be the same entity with a variable expression,  the Stormorken-York syndrome.

Clinical presentation:

• tendency to bleeding: thrombopenia and thrombopathy; in reality, blood platelets are in a chronic state of preactivation with a thrombotic tendency but a decrease in their cohesion
• muscle weakness and atrophy, especially in the upper limbs, due to a tubular aggregate myopathy (see this term).

Anesthetic implications:

check number and function of the blood platelets (MultiplateR); avoid succinylcholine; risk of rhabdomyolysis induced by the halogenated agents ??

References : 

-        Boutroux H, Favier R, Héritier S, Lapillone H, Ballerini P, Leverger G.
Mise au point : les thrombopénies constitutionnelles.
J Pediatrie et Puériculture 2018 ; 31 : 160-7.

Updated: December  2020