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

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13 Citations (Scopus)

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

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Dementia
Phenotype
Thumb
Siblings
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Kohlschutter Tonz syndrome

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

Cite this

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abstract = "The Kohlsch{\"u}tter 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 Kohlsch{\"u}tter syndrome is still in need of further characterization.",
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T1 - A further family with epilepsy, dementia and yellow teeth

T2 - the Kohlschütter syndrome

AU - Musumeci, Sebastiano Antonino

AU - Elia, Maurizio

AU - Ferri, Raffaele

AU - Romano, Corrado

AU - Scuderi, Carmela

AU - Del Gracco, Stefano

PY - 1995/3

Y1 - 1995/3

N2 - 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.

AB - 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.

KW - Amelogenesis imperfecta

KW - Autosomal recessive

KW - Dementia

KW - Enamel dysplasia

KW - Epilepsy

KW - Neurophysiology

KW - Occipital spike

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