Brain Advance Access originally published online on November 4, 2005
Brain 2006 129(1):272-277; doi:10.1093/brain/awh663
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Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16
1 Clinical Genetics, St Mary's Hospital Manchester, Hathersage Road, Manchester, 2 Department of Paediatrics, Queens Park Hospital, Blackburn, 3 Molecular Medicine Unit, University of Leeds, St James University Hospital, Beckett Street, Leeds, 4 Clinical Genetics, Birmingham Women's Hospital, Edgbaston, Birmingham, 5 Department of Neuroradiology, Frenchay Hospital, Bristol, 6 Cambridge Institute of Medical Research, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge and 7 Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, UK
Correspondence to: Dr Daniela T. Pilz, Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK E-mail: daniela.pilz{at}cardiffandvale.wales.nhs.uk
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.
Key Words: leucodysplasia; microcephaly; cerebral malformation; autosomal recessive; neonatal seizures
Abbreviations: SNP = single nucleotide polymorphism
Received March 23, 2005. Revised September 18, 2005. Accepted September 19, 2005.
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