Stormorken-Sjaastad-Langslet syndrome

Stormorken-Sjaastad-Langslet syndrome, also known as Stormorken syndrome, is an extremely rare multisystem disorder characterized by a distinctive combination of features including thrombocytopathy (platelet dysfunction), muscle fatigue (tubular aggregate myopathy), miosis (constricted pupils), asplenia or hyposplenism, headaches/migraine, ichthyosis (scaly skin), and dyslexia. The condition is caused by gain-of-function mutations in the STIM1 gene, which encodes a protein critical for store-operated calcium entry (SOCE) in cells. The constitutive activation of calcium signaling pathways leads to the diverse clinical manifestations affecting multiple organ systems including the blood/platelets, skeletal muscle, eyes, spleen, skin, and nervous system. Patients typically present in childhood with a bleeding tendency due to platelet dysfunction, along with muscle weakness and easy fatigability related to tubular aggregate myopathy. The characteristic triad of miosis, thrombocytopathy, and tubular aggregate myopathy is considered highly suggestive of the diagnosis. Additional features may include short stature, anemia, and intellectual difficulties including dyslexia. The acronym 'STIM1-associated' conditions has been used to describe the spectrum of disorders caused by STIM1 mutations, which also includes York platelet syndrome and tubular aggregate myopathy. Treatment is primarily supportive and symptom-directed. Management of bleeding episodes may require platelet transfusions or antifibrinolytic agents. Physical therapy may help with muscle-related symptoms. Patients require multidisciplinary care involving hematologists, neurologists, ophthalmologists, and dermatologists. No curative therapy is currently available, and long-term follow-up is essential to monitor the progression of symptoms across affected organ systems.

Common questions about Stormorken-Sjaastad-Langslet syndrome