A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)133-138
Number of pages6
JournalBrain and Development
Volume17
Issue number2
DOIs
Publication statusPublished - Mar 1995

Keywords

  • Amelogenesis imperfecta
  • Autosomal recessive
  • Dementia
  • Enamel dysplasia
  • Epilepsy
  • Neurophysiology
  • Occipital spike

ASJC Scopus subject areas

  • Developmental Neuroscience
  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology
  • Neurology

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