A FURTHER FAMILY WITH EPILEPSY, DEMENTIA AND YELLOW TEETH - THE KOHLSCHUTTER SYNDROME

The Kohlschutter syndrome is a very uncommon inherited disorder charac terized by epilepsy, dementia, and yellow teeth, We present two new pa tients who contribute to an increase in our knowledge of the clinical phenotype of this syndrome, They are two siblings born from consanguin eous parents, Dysmorphological signs, such as broad thumbs, are report ed for the first time in association with this syndrome, together with neurophysiological peculiarities (occipital evoked spikes) and hypopl asia of the cerebellar vermis, The authors suggest that ethnic factors might be important and conclude that the clinical phenotype of the Ko hlschutter syndrome is still in need of further characterization.