Miller-Dieker syndrome (MDS) is a multiple malformation syndrome characterized by classical lissencephaly and a characteristic facies. It is associated with visible or submicroscopic deletions within chromosome band 17p13.3. Lissencephaly without facial dysmorphism has also been observed and is referred to as isolated lissencephaly sequence (ILS). Apparently partial and non-overlapping deletion...

Key-words Definition/Classification Etiology Classic lissencephalies Lissencephaly variants Cobblestone lissencephalies Bibliography

PURPOSE To study the usefulness of EEG in the diagnosis of lissencephaly, a rare cortical developmental disorder associated with abnormal cellular proliferation. Currently, the clinical emphasis is placed on the radiological and genetic aspects for the diagnosis of lissencephaly. METHODS This is a retrospective review of consecutive EEG recordings and imaging data from 14 children, with the d...

Lissencephaly is a type of the congenital malformation of the brain. Due to the impairments of neuronal migration, patients show absence of brain convolution manifesting smooth brain surfaces. One of the human genes responsible for lissencephaly is the platelet-activating factor acetylhydrolase 1b gene (PAFAH1B; also known as LIS1) located on 17p13.3. Patients with heterozygous deletion of this...

The lissencephalies are a group of disorders characterized by the paucity of gyral and sulcal formation known as agyria and pachygyria resulting from abnormal neuronal migration between about 8 to 14 weeks’ gestation. We report an antenatally diagnosed unique case of lissencephaly with severe cerebellar hypoplasia and bilateral complete cleft lip and palate. Although lissencephaly syndromes can...

Lissencephaly is a rare malformation of the human brain manifest by a smooth cerebral surface. It is usually associated with other brain anomalies. The computed tomographic appearance in nine patients with lissencephaly, representing several separate types and syndromes, is reported. Common manifestations include a smooth cerebral surface and absent opercula that may lend a figure-eight appeara...

Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect con...