Chapter 4. Lissencephaly, Type I 35 DEFINITION Lissencephaly, derived from the Greek works “lissos” meaning smooth and “enkephalos” which means brain, is a descriptive term defining a class of human cerebral malformations characterized by the agyric surface of the brain. In fact, most cases of lissencephaly do not have a complete loss of gyri; often the most ventral and medial gyri are relative...

Lissencephaly, which means ‘smooth cortex’, is caused by defective neuronal migration during development of the cerebral cortex and has devastating clinical consequences. ‘Classical’ lissencephaly seems to reflect mutations in regulators of the microtubule cytoskeleton, whereas ‘cobblestone’ lissencephaly is caused by mutations in genes needed for the integrity of the basal lamina of the centra...

Lissencephaly means smooth brain, i.e., brain without convolutions or gyri. Miller in (1963) and later Dieker in 1969 described a specific pattern of malfor mations, one feature of which was lissencephaly(l,2). They emphasized that this should be called lissencephaly syndrome because of the association of polydactyly, unusual facial appearanc es, malformation of the heart, kidneys and other org...

Lissencephaly is a cortical malformation secondary to impaired neuronal migration resulting in mental retardation, epilepsy and motor impairment. It shows a severity spectrum from agyria with a severely thickened cortex to posterior band heterotopia only. The LIS1 gene on 17p13.3 encodes a 45 kDa protein named PAFAH1B1 containing seven WD40 repeats. This protein is required for optimal neuronal...

We present a case report of a twelve-day old child suffering from seizures, in which magnetic resonance imaging (MRI) established the diagnosis of Lissencephaly. Although the causes of this disease entity are manifold, MRI can reveal stigmata of antenatal maternal infections in the child. In such a scenario, cytomegalovirus (CMV) is an important offender. In this article we discuss the pathogen...

INTRODUCTION Lissencephaly ("smooth brain") forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children. The prenatal diagnosis of this malformation is rare. CASE REPORT We presented a case of the prenatal diagnosis of lissencephaly. A 30-year-old pregnant woman was reffered to the hospital at th...

Lissencephaly has been described in over 10 distinct malformation syndromes. Recently, we have recognized 5 children from four unrelated families with an almost identical disorder comprising lissencephaly with a posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset epilepsy, hypothalamic dysfunction including deficient tempe...