Diagnostic features and clinical signs of 21 patients with lissencephaly type 1

Dev Med Child Neurol. 1990 Aug;32(8):707-17. doi: 10.1111/j.1469-8749.1990.tb08431.x.


Lissencephaly type I has been described as either the cerebral expression of a complex malformation syndrome such as Miller-Dieker syndrome (MDS), or as isolated lissencephaly sequence (ILS). In a nation-wide study in The Netherlands, of 21 patients with lissecephaly type I, four were found to have MDS and 17 ILS. New clinical aspects were as follows: the mean life-span of the entire group was longer than previously reported; patients with lissencephaly grades 3 or 4 (mixture of agyria and pachygyria, or complete pachygyria) developed seizures later than those with grades 1 and 2 (complete and almost complete agyria); microcephaly was not always present in patients with grades 3 and 4 lissencephaly; and patients with lissencephaly grades 1 and 2 had hardly any psychomotor development, while those with grades 3 and 4 were severely retarded.

Publication types

  • Case Reports
  • Clinical Trial
  • Multicenter Study
  • Review

MeSH terms

  • Cerebral Cortex / abnormalities*
  • Cerebral Cortex / pathology
  • Child, Preschool
  • Chromosome Aberrations / diagnosis
  • Chromosome Aberrations / genetics
  • Chromosome Deletion
  • Chromosome Disorders
  • Chromosomes, Human, Pair 17
  • Female
  • Humans
  • Infant
  • Male
  • Netherlands
  • Syndrome
  • Tomography, X-Ray Computed*