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

@article{Chandler2006LeucodysplasiaMC,
  title={Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.},
  author={Kate E. Chandler and Ana del Rio and Karl Rakshi and Kelly Springell and Dustin Kyle Williams and Neil Stoodley and C Geoffrey Woods and Daniela T. Pilz},
  journal={Brain : a journal of neurology},
  year={2006},
  volume={129 Pt 1},
  pages={272-7}
}
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… CONTINUE READING