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Cortical Malformations

Lissencephaly

Neuronal migration describes the journey the nerve cells make from the inner to the outer surface of the brain during development to form the cortex (grey matter). Lissencephaly is a neuronal migration disorder, and the name 'lissencephaly' is derived from the Greek words 'lissos' - smooth and 'encephalos' - brain. The convolutions (folds) of the brain can be absent, giving the surface the 'smooth' appearance. Two major types are distinguished: classical lissencephaly (also known as type I) and cobblestone lissencephaly (also known as type II). Several syndromes are recognised with each type. General problems include developmental delay, seizures, and feeding difficulties. Life expectancy is often reduced.

Classical lissencephaly can be associated with agyria (absent convolutions) or pachygyria (reduced and thickened convolutions) of the brain and subcortical band heterotopia (SBH) - a band of nerve cells located in the white matter instead of the grey matter. Syndromes with classical lissencephaly include Miller-Dieker syndrome (MDS) associated with distinct facial features and occasional heart or abdominal defects, and Isolated Lissencephaly Sequence (ILS), where associated features are uncommon.

Cobblestone lissencephaly syndromes include Walker-Warburg syndrome (WWS), Muscle-Eye-Brain disease (MEB) and Fukuyama Congenital Muscular Dystrophy (FCMD). These conditions are also associated with developmental eye problems and muscular dystrophy.

Related neuronal migration disorders View Related neuronal migration disorders

Medical text written September 2001 by Dr D Pilz, last updated October 2007 by Dr D Pilz, Consultant Clinical Geneticist, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

 

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