Stormorken syndrome or York platelet syndrome: A clinician's dilemma

摘要

We read the paper recently published byMarkello et al. in the latestissue [1]. Analysis of our observations [2] together with a review ofother cases [3,4] suggests that patients with the c.910CNT mutation inSTIM1 gene (p.R304W) have the same heterogeneous disease and thatStormorken syndrome (StS) and York platelet syndrome (YPS) areprobably two different names for the same clinical condition. The confusioncould be due to the strategy used to study platelets. Indeed, in patientsaffected with YPS platelets have been extensively studied byelectron microscopy, not in the patients with StS. It should be notedthat among the many biological symptoms of StS, thrombocytopeniaand thrombocytopathia have been first described as major and constantdefects [2–5].