[MIM 185 070]

Extremely rare. Autosomal dominant transmission of a mutation of STIM1 gene which codes for a transmembrane protein that connects the cytoplasm to the endoplasmic reticulum and modulates the concentration of cytoplasmic Ca ++.

Clinical presentation:

-        bleeding tendency: thrombocytopenia; in reality, platelets are in a chronic state of preactivation with thrombotic tendency but with a decrease in their aggregability

-        asplenia or hyposplenism

-        miosis

-        tubular aggregates myopathy, particularly at the level of type II muscle fibres with: myalgia, cramps at the effort, very high CPK level

-        ichthyosis

-        migraines

Anesthetic implications:

check count and function of platelets (MultiplateŠ); avoid succinylcholine; risk of rhabdomyolysis induced by the halogenated agents ?

References : 

-          Misceo D, Holmgren A, Louch WE, Holme PA et al. 
A dominant STIM1 mutation causes Stormorken syndrome. 
Hum Mut 2014; 35 : 1-9.

Updated: September 2018