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 language | English |
|---|---|
| Pages (from-to) | 133-138 |
| Number of pages | 6 |
| Journal | Brain and Development |
| Volume | 17 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Mar 1995 |
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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
A further family with epilepsy, dementia and yellow teeth : the Kohlschütter syndrome. / Musumeci, Sebastiano Antonino; Elia, Maurizio; Ferri, Raffaele; Romano, Corrado; Scuderi, Carmela; Del Gracco, Stefano.
In: Brain and Development, Vol. 17, No. 2, 03.1995, p. 133-138.Research output: Contribution to journal › Article
}
TY - JOUR
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
UR - http://www.scopus.com/inward/record.url?scp=0028902294&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028902294&partnerID=8YFLogxK
U2 - 10.1016/0387-7604(95)00013-2
DO - 10.1016/0387-7604(95)00013-2
M3 - Article
C2 - 7625549
AN - SCOPUS:0028902294
VL - 17
SP - 133
EP - 138
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 2
ER -