| Autor: |
Chandler, K. E., Del Rio, A., Rakshi, K., Springell, K., Williams, D. K., Stoodley, N., Woods, C. G., Pilz, D. T. |
| Zdroj: |
Brain: A Journal of Neurology; January 2006, Vol. 129 Issue: 1 p272-277, 6p |
| Abstrakt: |
We report three related and one unrelated child with an apparently novel neurodevelopmental disorder. The clinical course was very similar in all the four patients: congenital microcephaly with severe failure of post-natal brain growth, neonatal onset of intractable seizures associated with lack of developmental progression and death within the first 3 years of life. The appearance on cerebral neuroimaging was almost identical, with simplified gyration associated with a non-thickened cortex, severe hypoplasia of the corpus callosum, a small flattened brain stem, and specific cystic lesions in the white matter around the temporal and occipital horns. To our knowledge these patients represent a previously unreported, autosomal recessive syndrome. Homozygosity mapping in the consanguineous family has identified a candidate region on the chromosome 2p16. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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