OBJECTIVE Miller-Dieker syndrome (MDS) is a malformation of cortical development that results in lissencephaly (meaning smooth brain). This disorder is caused by heterozygous deletions on chromosome 17p13.3, including the lissencephaly 1 (LIS1) gene. Various mouse models have been used as an experimental paradigm in understanding human lissencephaly, but clear limitations exist in these studies...

Patients with malformations of cortical development (MCD) present with a wide spectrum of clinical manifestations ranging from asymptomatic cases to those with epilepsy and neurodevelopmental problems. Thorough clinical delineation of patients with MCD may provide clues for future phenotype-genotype correlation studies. We studied clinical features of patients with MCD, including developmental ...

This study was conducted in a tertiary pediatric epilepsy clinic to ascertain the spectrum of development malformations in children, with seizures. Seventy Six Children (0-12 yr) with seizures and CNS malformations based on neuroimaging were included. Observed anomalies included dysgenetic corpus callosum (DCC), lissencephaly, focal cortical dysplasia (FCD), pachygyria, polymicrogyria, heteroto...

MR imaging was performed on a 2-year-old girl whose history included low Apgar score, hypotonicity, and myoclonic seizures at birth . Her psychomotor and growth development were retarded. She had mild microcephaly and was hypotonic. Electroencephalography showed generalized epileptogenic activity. MR imaging was performed on a 0.5-T scanner. T1-weighted images, SE 500/30, performed in the axial...

A 1-year-old neutered male Pekingese was presented for evaluation and further treatment of cluster seizures. The dog had behavioral abnormalities, and a prosencephalic lesion was suspected following neurological examination. The dog showed signs of learning difficulty. Magnetic resonance imaging of the brain revealed a remarkably smooth cerebral cortex with a reduced number of gyri, as well as ...

Lissencephaly ("smooth brain") or agyria is a rare congenital malformation resulting from an arrest of the development of the human brain during the third to fourth month of gestation [1]. Before this stage of fetal cerebral development, the absence of gyri is normal [2]. The radiologic findings on plain skull radiography, pneumoencephalography, cerebral arteriography, and , more recently, cran...

The malformations of the cerebral cortex represent a major cause of developmental disabilities, severe epilepsy and reproductive disadvantage. The advent of high resolution MRI techniques has facilitated the in vivo identification of a large group of cortical malformation phenotypes. Several malformation syndromes caused by abnormal cortical development have been recognized and specific causati...