Journal Article

Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16

K. E. Chandler, A. Del Rio, K. Rakshi, K. Springell, D. K. Williams, N. Stoodley, C. G. Woods and D. T. Pilz

in Brain

Published on behalf of The Guarantors of Brain

Volume 129, issue 1, pages 272-277
Published in print January 2006 | ISSN: 0006-8950
Published online November 2005 | e-ISSN: 1460-2156 | DOI: http://dx.doi.org/10.1093/brain/awh663
Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16

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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.

Keywords: leucodysplasia; microcephaly; cerebral malformation; autosomal recessive; neonatal seizures; SNP = single nucleotide polymorphism

Journal Article.  3150 words.  Illustrated.

Subjects: Neurology ; Neuroscience

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