Objective: Limited information is available about the development of focal cortical gyration anomalies in the human brain. Using prenatal MRI, we characterized focal cortical gyration anomalies at an early formative stage and sought clues about the mechanisms of their development.
Materials and methods: From a large prenatal MRI database, 30 cases (gestational age, ≤ 24 weeks) with reported focal distortion of the cortical rim profile were selected. Eight cases were matched with histologic examinations; another seven had prenatal MRI, MRI autopsy, or postnatal MRI follow-up; and 15 had no follow-up but did present analogous abnormal cortical features. Focal cortical gyration anomalies were detectable when the brain was still smooth (i.e., physiological lissencephaly).
Results: Four patterns of cortical plate anomaly were identified: wartlike (11 cases), abnormal invaginating sulcus (11 cases), sawtooth (six cases), and single or multiple bumps (two cases). A thinned or blurred subplate and intermediate zone in the focal cortical gyration anomaly site was detected in 80% of cases. All but two cases had other intracranial anomalies. Seven cases were classified as hypoxic-ischemic, five as genetic, and three as infective. In 15 cases, the cause could not be established. In five fetuses with further intrauterine or postnatal MRI, focal cortical gyration anomalies increased in complexity, fulfilling postnatal imaging criteria of polymicrogyria.
Conclusion: Focal cortical gyration anomalies can be detected at the early sulcation process stage. The process leading to abnormal gyration may evolve faster than physiologic ones and seems to be related to alterations of parenchymal layering occurring before 24 weeks' gestation. Most focal cortical gyration anomalies evolve toward what is currently considered polymicrogyria.