title: [Stormorken's syndrome].
abstract: In 1985, a new syndrome with the following characteristics was described: thrombopathia, thrombopenia, asplenia, miosis, headache, ichthyosis, dyslexia, muscle defect, and subsequently also hypocalcaemia. Skin and deep bleedings, leg spasms, disturbed dark vision and dyslexia are main worries. This paper describes these patients with a review of the investigations performed. Causes of the bleeding tendency are complex disturbances of the platelet membrane causing insufficient stability of the haemostatic plug, the nature of which is unresolved, but involves membrane scrambling. The muscle defect consists in tubular aggregates and high blood values of creatine kinase. A connection with the hypocalcaemia is possible, because increasing the ionic Ca with calcitriol significantly improves muscle function. Miosis is resistant to mydriatics and causes decreased dark vision, possibly also influencing dyslexia. The asplenia has little influence on immunocompetence, and the patients have survived 300 patient years without critical infections. The gene defect has not yet been unravelled.
authors.affiliation: hestormo@frisurf.no
authors.forename: Helge
authors.initials: H
authors.lastname: Stormorken
mesh_terms: D000328:Adult; D000368:Aged; D002675:Child, Preschool; D004410:Dyslexia / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006470:Hemorrhage / Q000175:diagnosis / Q000235:genetics; D006487:Hemostasis; D006801:Humans; D008297:Male; D008875:Middle Aged; D015877:Miosis / Q000175:diagnosis / Q000235:genetics; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics*; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013154:Spleen / Q000002:abnormalities*; D013577:Syndrome; D013921:Thrombocytopenia / Q000175:diagnosis / Q000235:genetics*