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Brain Advance Access published online on November 4, 2005
Brain, doi:10.1093/brain/awh663
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© The Author (2005). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received March 23, 2005
Revised September 18, 2005
Accepted September 19, 2005

Article

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

K. E. Chandler 1, A. Del Rio 2, K. Rakshi 2, K. Springell 3, D. K. Williams 4, N. Stoodley 5, C. G. Woods 6, and D. T. Pilz 7*

1 Clinical Genetics, St Mary's Hospital Manchester, Hathersage Road, Manchester, UK
2 Department of Paediatrics, Queens Park Hospital, Blackburn, UK
3 Molecular Medicine Unit, University of Leeds, St James University Hospital, Beckett Street, Leeds, UK
4 Clinical Genetics, Birmingham Women's Hospital, Edgbaston, Birmingham, UK
5 Department of Neuroradiology, Frenchay Hospital, Bristol, UK
6 Cambridge Institute of Medical Research, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge, UK
7 Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, UK

* To whom correspondence should be addressed.
D. T. Pilz, E-mail: daniela.pilz{at}cardiffandvale.wales.nhs.uk


  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.

Keywords: leucodysplasia; microcephaly; cerebral malformation; autosomal recessive; neonatal seizures.
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