A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome.
The Kohlschütter syndrome is a very uncommon inherited disorder characterized by epilepsy, dementia, and yellow teeth. We present two new patients who contribute to an increase in our knowledge of the clinical phenotype of this syndrome. They are two siblings born from consanguineous parents. Dysmorphological signs, such as broad thumbs, are reported for the first time in association with this syndrome, together with neurophysiological peculiarities (occipital evoked spikes) and hypoplasia of the cerebellar vermis. The authors suggest that ethnic factors might be important and conclude that the clinical phenotype of the Kohlschütter syndrome is still in need of further characterization.
Musumeci
S A
SA
Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.
Elia
M
M
Ferri
R
R
Romano
C
C
Scuderi
C
C
Del Gracco
S
S
D002531:Cerebellum / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003704:Dementia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005074:Evoked Potentials, Visual; D005190:Family; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014076:Tooth Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology