[Developmental malformations of the cerebral cortex]

Rofo. 2010 Jun;182(6):472-8. doi: 10.1055/s-0029-1245258. Epub 2010 Apr 23.
[Article in German]

Abstract

Migration disorders (MD) are increasingly recognized as an important cause of epilepsy and developmental delay. Up to 25 % of children with refractory epilepsy have a cortical malformation. MD encompass a wide spectrum with underlying genetic etiologies and clinical manifestations. Research regarding the delineation of the genetic and molecular basis of these disorders has provided greater insight into the pathogenesis of not only the malformation but also the process involved in normal cortical development. Diagnosis of MD is important since patients who fail three antiepileptic medications are less likely to have their seizures controlled with additional trials of medications and therefore epilepsy surgery should be considered. Recent improvements in neuroimaging have resulted in a significant increase in the recognition of MD. Findings can be subdivided in disorders due to abnormal neurogenesis, neuronal migration, neuronal migration arrest and neuronal organization resulting in different malformations like microcephaly, lissencephaly, schizencephaly and heterotopia. The examination protocol should include T 1-w and T 2-w sequences in adequate slice orientation. T 1-w turbo-inversion recovery sequences (TIR) can be helpful to diagnose heterotopia. Contrast agent is needed only to exclude other differential diagnoses.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Cerebral Cortex / pathology
  • Child
  • Child, Preschool
  • Choristoma / classification
  • Choristoma / diagnosis
  • Choristoma / genetics
  • Epilepsy / classification
  • Epilepsy / diagnosis
  • Epilepsy / genetics
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Lissencephaly / classification
  • Lissencephaly / diagnosis
  • Lissencephaly / genetics
  • Magnetic Resonance Imaging*
  • Malformations of Cortical Development / classification
  • Malformations of Cortical Development / diagnosis*
  • Malformations of Cortical Development / genetics
  • Malformations of Cortical Development, Group II / classification
  • Malformations of Cortical Development, Group II / diagnosis
  • Malformations of Cortical Development, Group II / genetics
  • Pregnancy
  • Prenatal Diagnosis
  • Prognosis
  • Sensitivity and Specificity