A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome

Abstract

Four unrelated patients who had the clinical appearance of Miller-Dieker syndrome, also called lissencephaly syndrome, were studied. All four had a typical clinical course with failure to thrive, severe psychomotor retardation, opisthotonos, seizures, and death early in life. None of these children had lissencephaly, the anticipated central feature of this disorder. One of the four had pachygyria, one had polymicrogyria, and two had both pachygyria and polymicrogyria. The brain weights were normal to decreased. The ventricles were dilated in all cases. The cerebral cortex was thickened in each, with decreased white matter and diminution or distortion of the cellular layers, and there were neuroglial heterotopias. The corpus callosum was partially absent in one and thinned in three. The neuropathy found in these children with Miller-Dieker syndrome suggests a spectrum of gyral anomalies resulting from a single type of embryonic error.