Stormorken–Sjaastad–Langslet syndrome

Stormorken Syndrome, also known as Stormorken–Sjaastad–Langslet Syndrome, is a rare genetic disorder characterized by a constellation of symptoms including thrombocytopenia (a condition where the blood has an abnormally low number of platelets), asplenia (absence of normal spleen function), miosis (excessive constriction of the pupil), ichthyosis (a condition that causes widespread and persistent thick, dry, "fish-scale" skin), muscle weakness, short stature, and dyslexia or other learning disabilities. This syndrome was first described in 1985 by Stormorken and colleagues, and it is considered an autosomal dominant disorder, meaning that only one copy of the affected gene is necessary for the manifestation of the syndrome.

Symptoms and Diagnosis

The clinical presentation of Stormorken Syndrome can vary significantly among affected individuals. However, the hallmark features include:

• Thrombocytopenia - leading to increased risk of bleeding and bruising.
• Asplenia or hyposplenism - resulting in increased susceptibility to infections.
• Miosis - which can affect vision due to the inability of the pupils to adequately adjust to light.
• Ichthyosis - causing significant skin discomfort and potential for secondary infections.
• Muscle weakness and fatigue, which can impact daily activities and mobility.
• Short stature and growth delays.
• Learning disabilities, particularly dyslexia, affecting educational and developmental progress.

Diagnosis of Stormorken Syndrome is primarily clinical, based on the presence of these characteristic symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the STIM1 gene, which has been linked to the syndrome.

Genetics

Stormorken Syndrome is caused by mutations in the STIM1 gene, which plays a crucial role in calcium signaling within cells. Calcium signaling is essential for various cellular functions, including muscle contraction, hormone secretion, and immune response. Mutations in STIM1 disrupt normal calcium signaling, leading to the diverse symptoms observed in Stormorken Syndrome.

Treatment

There is no cure for Stormorken Syndrome, and treatment is symptomatic and supportive. Management strategies may include:

• Regular monitoring and treatment for bleeding episodes due to thrombocytopenia.
• Vaccinations and prophylactic antibiotics to prevent infections due to asplenia.
• Dermatological treatments for ichthyosis to manage skin symptoms.
• Physical therapy and exercise programs to address muscle weakness.
• Educational support for learning disabilities.

Prognosis

The prognosis for individuals with Stormorken Syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. With appropriate care, most individuals can lead active and fulfilling lives.

See Also

• Thrombocytopenia
• Asplenia
• Ichthyosis
• Genetic disorders
• STIM1