We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.
- Authors
K. E. Chandler; A. Del Rio; K. Rakshi; K. Springell; D. K. Williams; N. Stoodley; C. G. Woods; D. T. Pilz
- Abstract
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.
- Publication
Brain: A Journal of Neurology, 2006, Vol 129, Issue 1, p272
- ISSN
0006-8950
- Publication type
Article
- DOI
10.1093/brain/awh663