HUM-MOLGEN DIAGnostics/Clinical Research

12 March 1998
Urbach-Wiethe syndrome OMIM 247100 

We are presently caring for a patient with sporadic Urbach-Wiethe syndrome (Hyalinosis cutis et mucosae, Lipoid proteinosis or Lipoproteinosis) who shows calcification of the amygdalae on CT and suffers from pharmakoresistant
epilepsy. Not only is the etiology of Urbach-Wiethe syndrome unknown but also the chemical nature of the material that is abnormally deposited in skin, submucosa and brain seems not clarified up to now. Since our patient is scheduled for epilepsy surgery (selective removal of amygdala and hippocampus) in the next few weeks this could provide an unique opportunity to characterize the pathologically stored calcifying substances. We are therefore looking for a laboratory that might be interested in a such a neurochemical analysis.

Collaboration would be most welcome!

Dr. A. Danek
University Department of Neurology
POB 701260
D-81366 M=FCnchen
phone xx49/89/7095-1; -2824