ENGLISH ABSTRACT
JOURNAL ARTICLE
Add like
Add dislike
Add to saved papers

[Stormorken's syndrome].

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.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

For the best experience, use the Read mobile app

Mobile app image

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

By using this service, you agree to our terms of use and privacy policy.

Your Privacy Choices Toggle icon

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app