Rare Disease Day is Nearly Here

Friday 28th February 2014

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. So CLIPPERS is definitely rare on both counts and probably rare even for an officially rare disease. The hope is that by considering the relationships between rare conditions and more common ones, greater progress can be made in diagnosis, treatment and patient care.

 

http://www.rarediseaseday.org/

 



Read other articles in this series at Living With CLIPPERS.


Living With CLIPPERS by Bill Crum is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.

A Spanish Case of CLIPPERS

A recent fatal BSOD encountered in my day-job.

I've been holding off discussing this case (CLIPPERS syndrome with atypical distribution of lesions in magnetic resonance imaging of the brain) in the hope I could get hold of the full text - unfortunately I couldn't. Anyhow, these single cases, while interesting, are not always that insightful as these days they have to be atypical (or at least notably different in some way from "classic" CLIPPERS)  to be published. 

What I mean is that, they may be interesting to the specialist, but by throwing in an unusual presentation of symptoms or comorbidities, they can "muddy the waters" (in my view at least) as to what CLIPPERS really is. On the other hand, you could argue that I don't know what I'm talking about (and you'd be right!) and that CLIPPERS could be a broad-spectrum disorder that is still being mapped out by these case studies.

I only got to read the summary of this paper, but the gist seems to be that a 40 year old woman presented with some of the better-known CLIPPERS symptoms (diplopia, ataxia, disarthria) but a non-standard appearance of brain lesions in MRI. The lesions seemed to be in the standard places but more evenly distributed (?) (with the proviso that I'm not 100% certain what "enhancement gradient" means in this context); the authors imply the lesion density remains more constant in different parts of the brain than is typical. The response to treatment with steroids seems to be as expected for CLIPPERS.

So at least there are still papers coming through and things to be learned about CLIPPERS.

Read other articles in this series at Living With CLIPPERS.

Living With CLIPPERS by Bill Crum is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.